Genomic Analyses from Non-invasive Prenatal Testing Reveal Genetic Associations, Patterns of Viral Infections, and Chinese Population History
Open accessAbstract
We analyze whole-genome sequencing data from 141,431 Chinese women generated for non-invasive prenatal testing (NIPT). We use these data to characterize the population genetic structure and to investigate genetic associations with maternal and infectious traits. We show that the present day distribution of alleles is a function of both ancient migration and very recent population movements. We reveal novel phenotype-genotype associations, including several replicated associations with height and BMI, an association between maternal age and EMB, and between twin pregnancy and NRG1. Finally, we identify a unique pattern of circulating viral DNA in plasma with high prevalence of hepatitis B and other clinically relevant maternal infections. A GWAS for viral infections identifies an exceptionally strong association between integrated herpesvirus 6 and MOV10L1, which affects piwi-interacting RNA (piRNA) processing and PIWI protein function. These findings demonstrate the great value and potential of accumulating NIPT data for worldwide medical and genetic analyses.
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Other East Asian studies have estimated higher heritability for some quantitative traits than BBJ using the same methods, such as for height (h2 = 0.48±0.04 in Chinese women).
“Indeed, other East Asian studies have estimated higher heritability for some quantitative traits than BBJ using the same methods, such as for height (h2 = 0.48±0.04 in Chinese women60).”
From Clinical use of current polygenic risk scores may exacerbate health disparities (2019) · cites this paper as [60]
In “Phenotype-Genotype Associations of Multiple Complex Traits” (page unavailable), the paper reports an LD-score-regression SNP heritability of 0.48 for height; the Introduction identifies the study population as pregnant Chinese women. Our copy does not give the claimed ±0.04 uncertainty or establish the comparison with BBJ, so those parts remain unsupported. (LLM, conf=0.84)
Experimental — accuracy not yet measuredNoninvasive prenatal testing had exceeded ten million tests by 2018 across multiple countries.
“Other examples of the rapid adoption of new genomic technologies include noninvasive prenatal testing (more than ten million tests by 2018 across multiple countries139–141) and the use of recessive carrier panels for couples planning pregnancies.”
From A brief history of human disease genetics (2020) · cites this paper as [139]
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Basic local alignment search tool
Altschul, S. F., Gish, W., Miller, W., Myers, E. W., & Lipman, D. J. (1990) · Journal of Molecular Biology · doi:10.1006/jmbi.1990.9999 · Cited by 98,669 · see citing works
The Sequence Alignment/Map format and SAMtools
Li, H., Handsaker, B., Wysoker, A., Fennell, T., Ruan, J., Homer, N., Marth, G., Abecasis, G., Durbin, R., & 1000 Genome Project Data Processing Subgroup (2009) · Bioinformatics · doi:10.1093/bioinformatics/btp352 · Cited by 62,041 · see citing works
Fast and accurate short read alignment with Burrows-Wheeler transform
Li, H., & Durbin, R. (2009) · Bioinformatics · doi:10.1093/bioinformatics/btp324 · Cited by 58,607 · see citing works
A global reference for human genetic variation
The 1000 Genomes Project Consortium, authors, C., Auton, A., Abecasis, G. R., Steering committee, Altshuler, D. M., Durbin, R. M., Abecasis, G. R., Bentley, D. R., Chakravarti, A., et al. (2015) · Nature · doi:10.1038/nature15393 · Cited by 18,247 · see citing works
Self-citationSudlow, C., Gallacher, J., Allen, N., Beral, V., Burton, P., Danesh, J., Downey, P., Elliott, P., Green, J., Landray, M., et al. (2015) · PLOS Medicine · doi:10.1371/journal.pmed.1001779 · Cited by 12,728 · see citing works
A framework for variation discovery and genotyping using next-generation DNA sequencing data
DePristo, M. A., Banks, E., Poplin, R. E., Garimella, K. V., Maguire, J., Hartl, C., Philippakis, A., del Angel, G., Rivas, M. A., Hanna, M., et al. (2011) · Nature Genetics · doi:10.1038/ng.806 · Cited by 11,216 · see citing works
Database resources of the National Center for Biotechnology Information: update
Wheeler, D. L. (2003) · Nucleic Acids Research · doi:10.1093/nar/gkh073 · Cited by 10,691 · see citing works
The Human Genome Browser at UCSC
Kent, W. J., Sugnet, C. W., Furey, T. S., Roskin, K. M., Pringle, T. H., Zahler, A. M., & Haussler, A. D. (2002) · Genome Research · doi:10.1101/gr.229102 · Cited by 10,400 · see citing works
Analysis of protein-coding genetic variation in 60,706 humans
Exome Aggregation Consortium, Lek, M., Karczewski, K. J., Minikel, E. V., Samocha, K. E., Banks, E., Fennell, T., O’Donnell-Luria, A. H., Ware, J. S., Hill, A. J., et al. (2016) · Nature · doi:10.1038/nature19057 · Cited by 9,587 · see citing works
The Ensembl Variant Effect Predictor
McLaren, W., Gil, L., Hunt, S. E., Riat, H. S., Ritchie, G. R. S., Thormann, A., Flicek, P., & Cunningham, F. (2016) · Genome Biology · doi:10.1186/s13059-016-0974-4 · Cited by 8,099 · see citing works
Li, H. (2011) · Bioinformatics · doi:10.1093/bioinformatics/btr509 · Cited by 6,283 · see citing works
LD Score regression distinguishes confounding from polygenicity in genome-wide association studies
Schizophrenia Working Group of the Psychiatric Genomics Consortium, Bulik-Sullivan, B. K., Loh, P.-R., Finucane, H. K., Ripke, S., Yang, J., Patterson, N., Daly, M. J., Price, A. L., & Neale, B. M. (2015) · Nature Genetics · doi:10.1038/ng.3211 · Cited by 5,559 · see citing works
ClinVar: public archive of relationships among sequence variation and human phenotype
Landrum, M. J., Lee, J. M., Riley, G. R., Jang, W., Rubinstein, W. S., Church, D. M., & Maglott, D. R. (2014) · Nucleic Acids Research · doi:10.1093/nar/gkt1113 · Cited by 3,516 · see citing works
ANGSD: Analysis of Next Generation Sequencing Data
Korneliussen, T. S., Albrechtsen, A., & Nielsen, R. (2014) · BMC Bioinformatics · doi:10.1186/s12859-014-0356-4 · Cited by 2,982 · see citing works
Self-citationThe NHGRI GWAS Catalog, a curated resource of SNP-trait associations
Welter, D., MacArthur, J., Morales, J., Burdett, T., Hall, P., Junkins, H., Klemm, A., Flicek, P., Manolio, T., Hindorff, L., et al. (2014) · Nucleic Acids Research · doi:10.1093/nar/gkt1229 · Cited by 2,707 · see citing works
LocusZoom: regional visualization of genome-wide association scan results
Pruim, R. J., Welch, R. P., Sanna, S., Teslovich, T. M., Chines, P. S., Gliedt, T. P., Boehnke, M., Abecasis, G. R., & Willer, C. J. (2010) · Bioinformatics · doi:10.1093/bioinformatics/btq419 · Cited by 2,707 · see citing works
Chen, Y., Chen, Y., Shi, C., Huang, Z., Zhang, Y., Li, S., Li, Y., Ye, J., Yu, C. H., Li, Z., et al. (2017) · GigaScience · doi:10.1093/gigascience/gix120 · Cited by 2,437 · see citing works
Self-citationYengo, L., Sidorenko, J., Kemper, K. E., Zheng, Z., Wood, A. R., Weedon, M. N., Frayling, T. M., Hirschhorn, J. N., Yang, J., & Visscher, P. M. (2018) · Human Molecular Genetics · doi:10.1093/hmg/ddy271 · Cited by 2,305 · see citing works
The new NHGRI-EBI Catalog of published genome-wide association studies (GWAS Catalog)
MacArthur, J., Bowler, E., Cerezo, M., Gil, L., Hall, P., Hastings, E., Junkins, H., McMahon, A., Milano, A., Morales, J., et al. (2017) · Nucleic Acids Research · doi:10.1093/nar/gkw1133 · Cited by 2,161 · see citing works
The Electronic Medical Records and Genomics (eMERGE) Consortium, Wood, A. R., The MIGen Consortium, The PAGE Consortium, Study, T. L. C., Esko, T., Yang, J., Vedantam, S., Pers, T. H., Gustafsson, S., et al. (2014) · Nature Genetics · doi:10.1038/ng.3097 · Cited by 1,853 · see citing works
Genotype imputation for genome-wide association studies
Marchini, J., & Howie, B. (2010) · Nature Reviews Genetics · doi:10.1038/nrg2796 · Cited by 1,597 · see citing works
Efficient Bayesian mixed-model analysis increases association power in large cohorts
Loh, P.-R., Tucker, G., Bulik-Sullivan, B. K., Vilhjálmsson, B. J., Finucane, H. K., Salem, R. M., Chasman, D. I., Ridker, P. M., Neale, B. M., Berger, B., et al. (2015) · Nature Genetics · doi:10.1038/ng.3190 · Cited by 1,507 · see citing works
A Note on Exact Tests of Hardy-Weinberg Equilibrium
Wigginton, J. E., Cutler, D. J., & Abecasis, G. R. (2005) · The American Journal of Human Genetics · doi:10.1086/429864 · Cited by 1,458 · see citing works
The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease
Astle, W. J., Elding, H., Jiang, T., Allen, D., Ruklisa, D., Mann, A. L., Mead, D., Bouman, H., Riveros-Mckay, F., Kostadima, M. A., et al. (2016) · Cell · doi:10.1016/j.cell.2016.10.042 · Cited by 1,224 · see citing works
The UK10K project identifies rare variants in health and disease
The UK10K Consortium, Writing group, Walter, K., Min, J. L., Huang, J., Crooks, L., Memari, Y., McCarthy, S., Perry, J. R. B., Xu, C., et al. (2015) · Nature · doi:10.1038/nature14962 · Cited by 1,040 · see citing works
Self-citationChen, Z., Chen, J., Collins, R., Guo, Y., Peto, R., Wu, F., Li, L., & on behalf of the China Kadoorie Biobank (CKB) collaborative group (2011) · International Journal of Epidemiology · doi:10.1093/ije/dyr120 · Cited by 1,034 · see citing works
Self-citationUpper Palaeolithic Siberian genome reveals dual ancestry of Native Americans
Raghavan, M., Skoglund, P., Graf, K. E., Metspalu, M., Albrechtsen, A., Moltke, I., Rasmussen, S., Stafford Jr, T. W., Orlando, L., Metspalu, E., et al. (2014) · Nature · doi:10.1038/nature12736 · Cited by 963 · see citing works
Self-citationLarge-scale whole-genome sequencing of the Icelandic population
Gudbjartsson, D. F., Helgason, H., Gudjonsson, S. A., Zink, F., Oddson, A., Gylfason, A., Besenbacher, S., Magnusson, G., Halldorsson, B. V., Hjartarson, E., et al. (2015) · Nature Genetics · doi:10.1038/ng.3247 · Cited by 791 · see citing works
Database resources of the National Center for Biotechnology Information
Sayers, E. W., Barrett, T., Benson, D. A., Bryant, S. H., Canese, K., Chetvernin, V., Church, D. M., DiCuccio, M. N., Edgar, R., Federhen, S., et al. (2008) · Nucleic Acids Research · doi:10.1093/nar/gkn741 · Cited by 767 · see citing works
Nkhoma, E. T., Poole, C., Vannappagari, V. X., Hall, S. A., & Beutler, E. (2009) · Blood Cells Molecules and Diseases · doi:10.1016/j.bcmd.2008.12.005 · Cited by 709 · see citing works
Francioli, L. C., Menelaou, A., Pulit, S. L., Elbers, C. C., Kloosterman, W. P., van Setten, J., Nijman, I. J., Renkens, I., de Bakker, P. I. W., van Dijk, F., et al. (2014) · Nature Genetics · doi:10.1038/ng.3021 · Cited by 642 · see citing works
Self-citationThe Genotype-Tissue Expression (GTEx) Project
Carithers, L. J., & Moore, H. M. (2015) · Biopreservation and Biobanking · doi:10.1089/bio.2015.29031.hmm · Cited by 549 · see citing works
China's Floating Population: New Evidence from the 2000 Census
Liang, Z., & Ma, Z. (2004) · Population and Development Review · doi:10.1111/j.1728-4457.2004.00024.x · Cited by 524 · see citing works
Cheeran, M. C. ‐., Lokensgard, J. R., & Schleiss, M. R. (2009) · Clinical Microbiology Reviews · doi:10.1128/cmr.00023-08 · Cited by 517 · see citing works
Greenlandic Inuit show genetic signatures of diet and climate adaptation
Fumagalli, M., Moltke, I., Grarup, N., Racimo, F., Bjerregaard, P., Jørgensen, M. E., Korneliussen, T. S., Gerbault, P., Skotte, L., Linneberg, A. R., et al. (2015) · Science · doi:10.1126/science.aab2319 · Cited by 509 · see citing works
Self-citationZhang, H., Gao, Y. M., Jiang, F., Fu, M., Yuan, Y., Guo, Y., Zhu, Z., Lin, M.-W., Liu, Q., Tian, Z., et al. (2015) · Ultrasound in Obstetrics and Gynecology · doi:10.1002/uog.14792 · Cited by 394 · see citing works
Self-citationZou, H., Chen, Y., Duan, Z., Zhang, H., & Pan, C. Q. (2011) · Journal of Viral Hepatitis · doi:10.1111/j.1365-2893.2011.01492.x · Cited by 363 · see citing works
Self-citationFast Principal-Component Analysis Reveals Convergent Evolution of ADH1B in Europe and East Asia
Galinsky, K. J., Bhatia, G., Loh, P., Georgiev, S., Mukherjee, S., Patterson, N. J., & Price, A. L. (2016) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2015.12.022 · Cited by 357 · see citing works
Xu, S., Yin, X., Li, S., Jin, W., Lou, H., Yang, L., Gong, X., Wang, H., Shen, Y., Pan, X., et al. (2009) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2009.10.015 · Cited by 337 · see citing works
Self-citationGenome-wide analysis identifies 12 loci influencing human reproductive behavior
Barban, N., Study, L. C., Jansen, R., de Vlaming, R., Vaez, A., Mandemakers, J. J., Tropf, F. C., Shen, X., Wilson, J. F., Chasman, D. I., et al. (2016) · Nature Genetics · doi:10.1038/ng.3698 · Cited by 315 · see citing works
Genetic Structure of the Han Chinese Population Revealed by Genome-wide SNP Variation
Chen, J., Zheng, H., Bei, J.-X., Sun, L., Jia, W.-H., Li, T., Zhang, F., Seielstad, M., Zeng, Y.-X., Zhang, X., et al. (2009) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2009.10.016 · Cited by 315 · see citing works
The blood DNA virome in 8,000 humans
Moustafa, A., Xie, C., Kirkness, E. F., Biggs, W., Wong, E., Turpaz, Y., Bloom, K., Delwart, E., Nelson, K. E., Venter, J. C., et al. (2017) · PLoS Pathogens · doi:10.1371/journal.ppat.1006292 · Cited by 304 · see citing works
Extremely low-coverage sequencing and imputation increases power for genome-wide association studies
Pasaniuc, B., Rohland, N., McLaren, P. J., Garimella, K., Zaitlen, N., Li, H., Gupta, N., Neale, B. M., Daly, M. J., Sklar, P., et al. (2012) · Nature Genetics · doi:10.1038/ng.2283 · Cited by 299 · see citing works
Low-coverage sequencing: Implications for design of complex trait association studiesPreprint
Li, Y., Sidore, C., Kang, H. M., Boehnke, M., & Abecasis, G. R. (2011) · Genome Research · doi:10.1101/gr.117259.110 · Cited by 296 · see citing works
Discovery of unfixed endogenous retrovirus insertions in diverse human populations
Halo, J. V., Williams, Z. H., Montesion, M., Subramanian, R. P., Kidd, J. M., & Coffin, J. M. (2016) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.1602336113 · Cited by 280 · see citing works
Rapid genotype imputation from sequence without reference panels
Davies, R. W., Jonathan Flint, C., Myers, S. R., & Mott, R. (2016) · Nature Genetics · doi:10.1038/ng.3594 · Cited by 274 · see citing works
Self-citationThe Genotype-Tissue Expression (GTEx) project
Lonsdale, J., Thomas, J., Salvatore, M., Phillips, R., Lo, E., Shad, S., Hasz, R., Walters, G., Garcia, F., Young, N., et al. (2013) · Nature Genetics · doi:10.1038/ng.2653 · Cited by 263 · see citing works
Yengo, L., Sidorenko, J., Kemper, K. E., et al. (2018) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/274654 · Cited by 260 · see citing works
Admixture, Population Structure, and F -Statistics
Peter, B. M. (2016) · Genetics · doi:10.1534/genetics.115.183913 · Cited by 256 · see citing works
Genetic signatures of high-altitude adaptation in Tibetans
Yang, J., Jin, Z., Chen, J., Huang, X., Li, X., Liang, Y., Mao, J.-Y., Chen, X., Zheng, Z., Bakshi, A., et al. (2017) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.1617042114 · Cited by 250 · see citing works
Massive APOBEC3 Editing of Hepatitis B Viral DNA in Cirrhosis
Vartanian, J., Henry, M., Marchio, A., Suspène, R., Aynaud, M.-M., Guétard, D., Cervantes-Gonzalez, M., Battiston, C., Mazzaferro, V., Pineau, P., et al. (2010) · PLoS Pathogens · doi:10.1371/journal.ppat.1000928 · Cited by 164 · see citing works
Jiang, F., Ren, J., Chen, F., Zhou, Y., Xie, J., Dan, S., Su, Y., Xie, J., Yin, B.-M., Su, W., et al. (2012) · BMC Medical Genomics · doi:10.1186/1755-8794-5-57 · Cited by 164 · see citing works
Self-citationThe RNA helicase MOV10L1 binds piRNA precursors to initiate piRNA processingPreprint
Vourekas, A., Zheng, K., Fu, Q., Maragkakis, M., Alexiou, P., Ma, J., Pillai, R. S., Mourelatos, Z., & Wang, P. J. (2015) · Genes & Development · doi:10.1101/gad.254631.114 · Cited by 163 · see citing works
Self-citationAssessing the Effect of Sequencing Depth and Sample Size in Population Genetics Inferences
Fumagalli, M. (2013) · PLoS ONE · doi:10.1371/journal.pone.0079667 · Cited by 161 · see citing works
Sequencing and de novo assembly of 150 genomes from Denmark as a population reference
Maretty, L., Jensen, J. M., Petersen, B., Sibbesen, J. A., Liu, S. M., Villesen, P., Skov, L., Belling, K., Have, C. T., Izarzugaza, J. M. G., et al. (2017) · Nature · doi:10.1038/nature23264 · Cited by 155 · see citing works
Self-citation(2001) · Choice Reviews Online · doi:10.5860/choice.38-6352 · Cited by 126 · see citing works
Selection in Europeans on Fatty Acid Desaturases Associated with Dietary Changes
Buckley, M. T., Racimo, F., Allentoft, M. E., Jensen, M. K., Jonsson, A. E., Huang, H., Hormozdiari, F., Sikora, M., Marnetto, D., Eskin, E., et al. (2017) · Molecular Biology and Evolution · doi:10.1093/molbev/msx103 · Cited by 121 · see citing works
Self-citationInternal migration in China, 1950–1988
Liang, Z., & White, M. J. (1996) · Demography · doi:10.2307/2061768 · Cited by 117 · see citing works
Kothapalli, K. S. D., Ye, K., Gadgil, M. S., Carlson, S. E., O'Brien, K. O., Zhang, J. Y., Park, H. G., Ojukwu, K., Zou, J., Hyon, S. S., et al. (2016) · Molecular Biology and Evolution · doi:10.1093/molbev/msw049 · Cited by 105 · see citing works
Adaptive Evolution of the FADS Gene Cluster within Africa
Mathias, R. A., Fu, W., Akey, J. M., Ainsworth, H. C., Torgerson, D. G., Ruczinski, I., Sergeant, S., Barnes, K. C., & Chilton, F. H. (2012) · PLoS ONE · doi:10.1371/journal.pone.0044926 · Cited by 103 · see citing works
Hypermutation of an Ancient Human Retrovirus by APOBEC3G
Lee, Y. N., Malim, M. H., & Bieniasz, P. D. (2008) · Journal of Virology · doi:10.1128/jvi.00751-08 · Cited by 96 · see citing works
FermiKit: assembly-based variant calling for Illumina resequencing data
Li, H. (2015) · Bioinformatics · doi:10.1093/bioinformatics/btv440 · Cited by 94 · see citing works
Epidemiology of Hepatitis B Virus Infection in China: Current Status and Challenges
Yan, Y., Su, H., Ji, Z., Shao, Z., & Pu, Z. (2014) · Journal of Clinical and Translational Hepatology · doi:10.14218/jcth.2013.00030 · Cited by 77 · see citing works
Karagöz, E., Ülçay, A., Tanoğlu, A., Kara, M., Turhan, V., Erdem, H., Öncül, O., & Görenek, L. (2014) · European Journal of Gastroenterology & Hepatology · doi:10.1097/meg.0000000000000203 · Cited by 71 · see citing works
Thyroid Function Testing in Pregnancy and Thyroid Disease
Soldin, O. P. (2006) · Therapeutic Drug Monitoring · doi:10.1097/01.ftd.0000194498.32398.7b · Cited by 70 · see citing works
Association Testing for Next‐Generation Sequencing Data Using Score Statistics
Skotte, L., Korneliussen, T. S., & Albrechtsen, A. (2012) · Genetic Epidemiology · doi:10.1002/gepi.21636 · Cited by 59 · see citing works
Self-citationHuang, R.-P., Ozawa, M., Kadomatsu, K., & Muramatsu, T. (1993) · Developmental Biology · doi:10.1006/dbio.1993.1030 · Cited by 53 · see citing works
Natural positive selection and north–south genetic diversity in East Asia
Suo, C., Xu, H., Khor, C. C., Ong, R. T., Sim, X., Chen, J., Tay, W.-T., Sim, K. S., Zeng, Y., Zhang, X., et al. (2011) · European Journal of Human Genetics · doi:10.1038/ejhg.2011.139 · Cited by 49 · see citing works
Self-citationThe Impact of Natural Selection on an ABCC11 SNP Determining Earwax Type
Ohashi, J., Naka, I., & Tsuchiya, N. (2010) · Molecular Biology and Evolution · doi:10.1093/molbev/msq264 · Cited by 49 · see citing works
Generation and Characterization of Neuregulin-2-Deficient Mice
Britto, J. M., Lukehurst, S., Weller, R. E., Fraser, C., Qiu, Y., Hertzog, P. J., & Busfield, S. J. (2004) · Molecular and Cellular Biology · doi:10.1128/mcb.24.18.8221-8226.2004 · Cited by 48 · see citing works
Gene admixture in ethnic populations in upper part of Silk Road revealed by mtDNA polymorphism
Yang, L., Tan, S., Yu, H., Zheng, B., Qiao, E.-F., Dong, Y., Zan, R., & Xiao, C. (2008) · Science in China Series C Life Sciences · doi:10.1007/s11427-008-0056-2 · Cited by 24 · see citing works
Zwolińska, K., Knysz, B., Gąsiorowski, J., Pazgan−Simon, M., Gładysz, A., Sobczyński, M., & Piasecki, E. (2013) · PLoS ONE · doi:10.1371/journal.pone.0077820 · Cited by 12 · see citing works
Flagged first, then by citations
Research works printed but not linked: 1
- angsd Korneliussen et al., 2014 http://www.popgen.dk/angsd/index.php/ANGSD SNPtest Marchini and Howie, 2010 https://github.com/ANGSD/angsd locuszoom Pruim et al., 2010 http://locuszoom.sph.umich.edu liftover Kent et al., 2002 http://hgdownload.cse.ucsc.edu/admin/exe/ linux.x86_64/liftOver BLAST Sayers et al., 2009 https://blast.ncbi.nlm.nih.gov/Blast.cgi Cell 175, 347-359.e1-e7, October 4, 2018
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Antonarakis, S. E., Skotko, B. G., Rafii, M. S., Strydom, A., Pape, S. E., Bianchi, D. W., Sherman, S. L., & Reeves, R. H. (2020) · Nature Reviews Disease Primers · doi:10.1038/s41572-019-0143-7 · Cited by 964 · see citing works
A brief history of human disease genetics
Claussnitzer, M., Cho, J. H., Collins, R., Cox, N. J., Dermitzakis, E. T., Hurles, M. E., Kathiresan, S., Kenny, E. E., Lindgren, C. M., MacArthur, D. G., et al. (2020) · Nature · doi:10.1038/s41586-019-1879-7 · Cited by 697 · see citing works
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Wang, C., Yeh, H., Popov, А. N., Zhang, H., Matsumura, H., Sirak, K. A., Cheronet, O., Kovalev, A., Rohland, N., Kim, A. M., et al. (2021) · Nature · doi:10.1038/s41586-021-03336-2 · Cited by 431 · see citing works
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Cao, Y., Li, L., Xu, M., Feng, Z., Sun, X., Lu, J., Xu, Y., Du, P., Wang, T., Hu, R., et al. (2020) · Cell Research · doi:10.1038/s41422-020-0322-9 · Cited by 310 · see citing works
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Shendure, J., Findlay, G. M., & Snyder, M. W. (2019) · Cell · doi:10.1016/j.cell.2019.02.003 · Cited by 253 · see citing works
Self-citationLarge-Scale Whole-Genome Sequencing of Three Diverse Asian Populations in Singapore
Wu, D., Dou, J., Chai, X., Bellis, C., Wilm, A., Shih, C. C., Soon, W. W., Bertin, N., Lin, C. B., Khor, C. C., et al. (2019) · Cell · doi:10.1016/j.cell.2019.09.019 · Cited by 240 · see citing works
Self-citationPan, Z., Yao, Y., Yin, H. H., Cai, Z., Wang, Y., Bai, L., Kern, C., Halstead, M. M., Chanthavixay, G., Trakooljul, N., et al. (2021) · Nature Communications · doi:10.1038/s41467-021-26153-7 · Cited by 210 · see citing works
Self-citationGenotyping and population characteristics of the China Kadoorie Biobank
Walters, R. G., Millwood, I. Y., Lin, K., Schmidt, D., McDonnell, P., Hacker, A., Avery, D., Edris, A., Fry, H., Cai, N., et al. (2023) · Cell Genomics · doi:10.1016/j.xgen.2023.100361 · Cited by 154 · see citing works
Self-citationLi, J. H., Mazur, C. A., Berisa, T., & Pickrell, J. K. (2021) · Genome Research · doi:10.1101/gr.266486.120 · Cited by 135 · see citing works
Genomic analyses of 10,376 individuals in the Westlake BioBank for Chinese (WBBC) pilot project
Cong, P., Bai, W.-Y., Li, J., Yang, M., Khederzadeh, S., Gai, S.-R., Li, N., Liu, Y., Yu, S., Zhao, W.-W., et al. (2022) · Nature Communications · doi:10.1038/s41467-022-30526-x · Cited by 132 · see citing works
Self-citationHomburger, J. R., Neben, C. L., Mishne, G., Zhou, A. Y., Kathiresan, S., & Khera, A. V. (2019) · Genome Medicine · doi:10.1186/s13073-019-0682-2 · Cited by 120 · see citing works
The trans-omics landscape of COVID-19
Wu, P., Chen, D., Ding, W., Wu, P., Hou, H., Bai, Y., Zhou, Y., Li, K., Xiang, S., Liu, P., et al. (2021) · Nature Communications · doi:10.1038/s41467-021-24482-1 · Cited by 117 · see citing works
Self-citationZhang, P., Luo, H., Li, Y., Wang, Y., Wang, J., Zheng, Y., Niu, Y., Shi, Y., Zhou, H., Song, T., et al. (2021) · Cell Reports · doi:10.1016/j.celrep.2021.110017 · Cited by 119 · see citing works
Self-citationThe landscape of host genetic factors involved in immune response to common viral infections
Kachuri, L., Francis, S. S., Morrison, M. L., Wendt, G. A., Bossé, Y., Cavazos, T. B., Rashkin, S. R., Ziv, E., & Witte, J. S. (2020) · Genome Medicine · doi:10.1186/s13073-020-00790-x · Cited by 125 · see citing works
Self-citationHui, L., Ellis, K., Mayen, D., Pertile, M. D., Reimers, R., Sun, L., Vermeesch, J., Vora, N. L., & Chitty, L. S. (2023) · Prenatal Diagnosis · doi:10.1002/pd.6357 · Cited by 109 · see citing works
Human Disease Variation in the Light of Population Genomics
Prohaska, A., Racimo, F., Schork, A. J., Sikora, M., Stern, A. J., Ilardo, M. A., Allentoft, M. E., Folkersen, L., Buil, A., Moreno-Mayar, J. V., et al. (2019) · Cell · doi:10.1016/j.cell.2019.01.052 · Cited by 108 · see citing works
Self-citationCai, M., Xiao, J., Zhang, S., Wan, X., Zhao, H., Chen, G., & Yang, C. (2021) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2021.03.002 · Cited by 100 · see citing works
Advancements and Obstacles of CRISPR-Cas9 Technology in Translational Research
You, L., Tong, R., Li, M., Liu, Y., Xue, J., & Lü, Y. (2019) · Molecular Therapy — Methods & Clinical Development · doi:10.1016/j.omtm.2019.02.008 · Cited by 107 · see citing works
He, G., Wang, Z., Guo, J., Wang, M., Zou, X., Tang, R., Liu, J., Zhang, H., Li, Y., Hu, R., et al. (2020) · European Journal of Human Genetics · doi:10.1038/s41431-020-0599-7 · Cited by 95 · see citing works
Self-citationRapid genotype imputation from sequence with reference panels
Davies, R. W., Kučka, M., Su, D., Shi, S., Flanagan, M., Cunniff, C. M., Chan, Y. F., & Myers, S. R. (2021) · Nature Genetics · doi:10.1038/s41588-021-00877-0 · Cited by 92 · see citing works
Self-citationYang, R., Guo, X., Zhu, D., Tan, C. P. B., Bian, C., Ren, J., Huang, Z., Zhao, Y., Cai, G., Liu, D., et al. (2021) · GigaScience · doi:10.1093/gigascience/giab048 · Cited by 93 · see citing works
At the dawn: cell-free DNA fragmentomics and gene regulation
Liu, Y. (2021) · British Journal of Cancer · doi:10.1038/s41416-021-01635-z · Cited by 98 · see citing works
PGG.Han: the Han Chinese genome database and analysis platform
Gao, Y., Zhang, C., Yuan, L., Ling, Y., Wang, X., Liu, C., Pan, Y., Zhang, X., Ma, X., Wang, Y., et al. (2019) · Nucleic Acids Research · doi:10.1093/nar/gkz829 · Cited by 89 · see citing works
Zheng, W., He, Y., Guo, Y., Yue, T., Zhang, H., Li, J., Zhou, B., Zeng, X., Li, L., Wang, B., et al. (2023) · Genome biology · doi:10.1186/s13059-023-02912-1 · Cited by 79 · see citing works
Self-citationRiver Valleys Shaped the Maternal Genetic Landscape of Han Chinese
Li, Y., Ye, W.-J., Jiang, C., Zeng, Z., Tian, J.-Y., Yang, L., Liu, K.-J., & Kong, Q. (2019) · Molecular Biology and Evolution · doi:10.1093/molbev/msz072 · Cited by 77 · see citing works
Etten, J. L. V., Agarkova, I. V., & Dunigan, D. D. (2019) · Viruses · doi:10.3390/v12010020 · Cited by 79 · see citing works
Liu, Z., Mao, X., Zhou, D., Pei, Y., Xu, R., Guo, M., Liu, K., Zhang, F., Chen, J., Su, C., et al. (2021) · Gut Microbes · doi:10.1080/19490976.2020.1854967 · Cited by 74 · see citing works
Cheng, S., Xu, Z., Bian, S., Chen, X., Shi, Y., Li, Y., Duan, Y., Liu, Y., Lin, J., Jiang, Y., et al. (2023) · Cell Discovery · doi:10.1038/s41421-023-00582-8 · Cited by 65 · see citing works
Self-citationDetecting Selection in Multiple Populations by Modeling Ancestral Admixture Components
Cheng, J. Y., Stern, A. J., Racimo, F., & Nielsen, R. (2021) · Molecular Biology and Evolution · doi:10.1093/molbev/msab294 · Cited by 66 · see citing works
Self-citationYoo, S., Kim, C.-U., Kim, H. L., Kim, S., Shin, J.-Y., Kim, N., Yang, J. S. W., Lo, K. W., Cho, B., Matsuda, F., et al. (2019) · Genome Medicine · doi:10.1186/s13073-019-0677-z · Cited by 65 · see citing works
Chen, H., Huang, M., Yang, B. J., Wu, Z., Deng, Z., Hou, Y., Ren, J., & Huang, L. (2020) · GigaScience · doi:10.1093/gigascience/giaa014 · Cited by 64 · see citing works
BMI and lipidomic biomarkers with risk of gestational diabetes in pregnant women
Wang, Y., Wu, P., Huang, Y., Ye, Y., Yang, X., Sun, F., Ye, Y., Lai, Y., Ouyang, J., Wu, L., et al. (2022) · Obesity · doi:10.1002/oby.23517 · Cited by 64 · see citing works
Zhang, W., Chen, Z., Zhang, D., Zhao, B., Liu, L., Xie, Z., Yao, Y., & Zheng, P. (2019) · PLoS Biology · doi:10.1371/journal.pbio.3000468 · Cited by 59 · see citing works
Self-citationEvolution of Hominin Polyunsaturated Fatty Acid Metabolism: From Africa to the New World
Harris, D., Ruczinski, I., Yanek, L. R., Becker, L. C., Becker, D. M., Guio, H., Cui, T., Chilton, F. H., Mathias, R. A., & O’Connor, T. D. (2019) · Genome Biology and Evolution · doi:10.1093/gbe/evz071 · Cited by 57 · see citing works
The HuaBiao project: whole-exome sequencing of 5000 Han Chinese individuals
Hao, M., Pu, W., Li, Y., Wen, S., Sun, C., Ma, Y., Zheng, H., Chen, X., Tan, J., Zhang, G., et al. (2021) · Journal of genetics and genomics/Journal of Genetics and Genomics · doi:10.1016/j.jgg.2021.07.013 · Cited by 56 · see citing works
Self-citationpiRNA-Guided CRISPR-like Immunity in Eukaryotes
Ophinni, Y., Palatini, U., Hayashi, Y., & Parrish, N. F. (2019) · Trends in Immunology · doi:10.1016/j.it.2019.09.003 · Cited by 54 · see citing works
Gustafson, M. A., McCormick, E. M., Perera, L., Longley, M. J., Bai, R., Kong, J., Dulik, M. C., Shen, L., Goldstein, A. C., McCormack, S. E., et al. (2019) · PLoS ONE · doi:10.1371/journal.pone.0221829 · Cited by 50 · see citing works
Identifying loci under positive selection in complex population historiesPreprint
Refoyo-Martínez, A., da Fonseca, R. R., Halldórsdóttir, K., Árnason, E., Mailund, T., & Racimo, F. (2019) · Genome Research · doi:10.1101/gr.246777.118 · Cited by 49 · see citing works
Fu, X., Li, Y., Meng, Y., Yuan, Q., Zhang, Z., Wen, H., Deng, Y., Norbäck, D., Hu, Q., Zhang, X., et al. (2020) · Environmental Research · doi:10.1016/j.envres.2020.110501 · Cited by 57 · see citing works
The Born in Guangzhou Cohort Study enables generational genetic discoveries
Huang, S., Liu, S. M., Huang, M., He, J., Wang, C., Wang, T., Feng, X., Kuang, Y., Lu, J., Gu, Y., et al. (2024) · Nature · doi:10.1038/s41586-023-06988-4 · Cited by 45 · see citing works
Self-citationMeisner, J., & Albrechtsen, A. (2019) · Molecular Ecology Resources · doi:10.1111/1755-0998.13019 · Cited by 43 · see citing works
Self-citationCurrent clinical use of polygenic scores will risk exacerbating health disparities
Martin, A. R., Kanai, M., Kamatani, Y., Okada, Y., Neale, B. M., & Daly, M. J. (2018) · doi:10.1101/441261 · Cited by 2,813 · see citing works
Zhang, H., Dong, P., Guo, S., Tao, C., Chen, W., Zhao, W., Wang, J., Cheung, R. C., Villanueva, A., Fan, J., et al. (2020) · BMC Medicine · doi:10.1186/s12916-020-01667-x · Cited by 43 · see citing works
Self-citationYao, H., Wang, M., Zou, X., Li, Y., Yang, X., Li, A., Yeh, H., Wang, P., Wang, Z., Bai, J., et al. (2021) · Molecular Genetics and Genomics · doi:10.1007/s00438-021-01767-0 · Cited by 41 · see citing works
Self-citationZhen, J., Gu, Y., Wang, P., Wang, W., Bian, S., Huang, S., Liang, H., Huang, M., Yu, Y., Chen, Q., et al. (2024) · Diabetologia · doi:10.1007/s00125-023-06065-5 · Cited by 42 · see citing works
Self-citationYang, W.-Y., Feng, L., Meng, X. L., Chen, R., Xu, W.-H., Hou, J., Xu, T., & Zhang, L. (2020) · Expert Review of Molecular Diagnostics · doi:10.1080/14737159.2020.1855977 · Cited by 42 · see citing works
He, G., Wang, M., Li, Y., Zou, X., Yeh, H., Tang, R., Yang, X., Wang, Z., Guo, J., Luo, T., et al. (2020) · Journal of Systematics and Evolution · doi:10.1111/jse.12715 · Cited by 39 · see citing works
Constructing germline research cohorts from the discarded reads of clinical tumor sequences
Gusev, A., Groha, S., Taraszka, K., Semenov, Y. R., & Zaitlen, N. (2021) · Genome Medicine · doi:10.1186/s13073-021-00999-4 · Cited by 33 · see citing works
The landscape of host genetic factors involved in immune response to common viral infectionsPreprint
Kachuri, L., Francis, S. S., Morrison, M. L., Wendt, G. A., Bossé, Y., Cavazos, T. B., Rashkin, S. R., Ziv, E., & Witte, J. S. (2020) · medRxiv · doi:10.1101/2020.05.01.20088054 · Cited by 41 · see citing works
Self-citationNoninvasive Prenatal Testing Using Circulating DNA and RNA: Advances, Challenges, and Possibilities
Moufarrej, M. N., Bianchi, D. W., Shaw, G. M., Stevenson, D. K., & Quake, S. R. (2023) · Annual Review of Biomedical Data Science · doi:10.1146/annurev-biodatasci-020722-094144 · Cited by 40 · see citing works
Meng, Z., Ren, Q., Zhong, G., Li, S., Chen, Y., Wu, W., Feng, Y., Mao, M., Zhang, F., & Long, G. (2021) · Journal of Molecular Diagnostics · doi:10.1016/j.jmoldx.2021.06.003 · Cited by 39 · see citing works
Self-citationTeng, J., Zhao, P., Wang, D., Chen, Z., Tang, H., Li, J., Mei, C., Yang, Z., Ning, C., & Zhang, Q. (2022) · Journal of Dairy Science · doi:10.3168/jds.2021-21360 · Cited by 37 · see citing works
Self-citationHe, G., Yao, H., Duan, S., Luo, L., Sun, Q., Tang, R., Chen, J., Wang, Z., Sun, Y., Li, X., et al. (2025) · Science China Life Sciences · doi:10.1007/s11427-024-2748-4 · Cited by 41 · see citing works
piRNA associates with immune diseases
Jiang, M., Hong, X., Gao, Y., Kho, A. T., Tantisira, K. G., & Li, J. (2024) · Cell Communication and Signaling · doi:10.1186/s12964-024-01724-5 · Cited by 35 · see citing works
Genetic architecture and risk prediction of gestational diabetes mellitus in Chinese pregnancies
Gu, Y., Zheng, H., Wang, P., Liu, Y., Guo, X., Wei, Y., Yang, Z., Cheng, S., Chen, Y., Hu, L., et al. (2025) · Nature Communications · doi:10.1038/s41467-025-59442-6 · Cited by 36 · see citing works
Self-citationEndogenization and excision of human herpesvirus 6 in human genomes
Liu, X., Kosugi, S., Koide, R., Kawamura, Y., Ito, J., Miura, H., Matoba, N., Matsuzaki, M., Fujita, M., Kamada, A. J., et al. (2020) · PLoS Genetics · doi:10.1371/journal.pgen.1008915 · Cited by 35 · see citing works
Bian, C., Prakapenka, D., Tan, C. P. B., Yang, R., Zhu, D., Guo, X., Liu, D., Cai, G., Li, Y., Liang, Z., et al. (2021) · Genetics Selection Evolution · doi:10.1186/s12711-021-00661-y · Cited by 35 · see citing works
Fahsbender, E., da-Costa, A. C., Gill, D. E., Milagres, F. A. D. P., Brustulin, R., Monteiro, F. J. C., Rego, M. O. D. S., Ribeiro, E. S. D., Sabino, E. C., & Delwart, E. (2020) · PLoS ONE · doi:10.1371/journal.pone.0229993 · Cited by 25 · see citing works
Liu, W., Yan, H., Zhou, D., Cai, X. M., Zhang, Y., Li, S., Li, H., Li, S., Zhou, D., Li, X., et al. (2019) · Translational Psychiatry · doi:10.1038/s41398-019-0675-3 · Cited by 34 · see citing works
Self-citationLarge-scale inference of population structure in presence of missingness using PCA
Meisner, J., Liu, S. M., Huang, M., & Albrechtsen, A. (2021) · Bioinformatics · doi:10.1093/bioinformatics/btab027 · Cited by 31 · see citing works
Self-citationHe, G., Liu, J., Wang, M., Zou, X., Ming, T., Zhu, S., Yeh, H., Wang, C., Wang, Z., & Hou, Y. (2021) · Forensic Science International Genetics · doi:10.1016/j.fsigen.2021.102475 · Cited by 33 · see citing works
Liu, Y., Xie, J., Wang, M., Liu, C., Zhu, J., Zou, X., Li, W., Wang, L., Leng, C., Xu, Q., et al. (2022) · Frontiers in Genetics · doi:10.3389/fgene.2021.815160 · Cited by 32 · see citing works
Wang, M., Huang, Y., Song, Y., Chen, J., & Liu, X. (2021) · Frontiers in Public Health · doi:10.3389/fpubh.2021.615152 · Cited by 32 · see citing works
Shi, J., Ren, M., Jia, J., Tang, M., Guo, Y., Ni, X., & Shi, T. (2019) · Frontiers in Pharmacology · doi:10.3389/fphar.2019.01200 · Cited by 32 · see citing works
Wang, Z., Liu, K., Yuan, H., Duan, S., Liu, Y., Luo, L., Jiang, X., Chen, S., Wei, L., Tang, R., et al. (2025) · Genomics Proteomics & Bioinformatics · doi:10.1093/gpbjnl/qzaf049 · Cited by 31 · see citing works
Utilizing non-invasive prenatal test sequencing data for human genetic investigation
Liu, S. M., Liu, Y., Gu, Y., Lin, X., Zhu, H., Liu, H., Xu, Z., Cheng, S., Lan, X., Li, L., et al. (2024) · Cell Genomics · doi:10.1016/j.xgen.2024.100669 · Cited by 32 · see citing works
Self-citationMeisner, J., Albrechtsen, A., & Hanghøj, K. (2021) · BMC Bioinformatics · doi:10.1186/s12859-021-04375-2 · Cited by 30 · see citing works
Self-citationFinaleMe: Predicting DNA methylation by the fragmentation patterns of plasma cell-free DNA
Liu, Y., Reed, S. C., Lo, C., Choudhury, A. D., Parsons, H. A., Stover, D. G., Ha, G., Gydush, G., Rhoades, J., Rotem, D., et al. (2024) · Nature Communications · doi:10.1038/s41467-024-47196-6 · Cited by 29 · see citing works
Yasumizu, Y., Sakaue, S., Konuma, T., Ken, S., Matsuda, K., Murakami, Y., Kubo, M., Palamara, P. F., Kamatani, Y., & Okada, Y. (2020) · Molecular Biology and Evolution · doi:10.1093/molbev/msaa005 · Cited by 29 · see citing works
Limited overlap between genetic effects on disease susceptibility and disease survival
Yang, Z., Pajuste, F., Zguro, K., Cheng, Y., Kurant, D. E., Eoli, A., Wanner, J. S., Jermy, B. S., Rämö, J. T., FinnGen, et al. (2025) · Nature Genetics · doi:10.1038/s41588-025-02342-8 · Cited by 26 · see citing works
Chinese Immune Multi-Omics Atlas
Yin, J., Zheng, Y., Huang, Z., Zhou, W., Yuan, Y., Cai, P., Bai, Y., Yang, S., Gao, Y., Duan, S., et al. (2026) · Science · doi:10.1126/science.adt3130 · Cited by 34 · see citing works
Self-citationWang, Y., Zou, X., Wang, M., Yuan, D., Yang, L., Zeng, Y., Cheng, F., Tang, R., & He, G. (2022) · Molecular Genetics and Genomics · doi:10.1007/s00438-021-01837-3 · Cited by 26 · see citing works
Recent positive selection signatures reveal phenotypic evolution in the Han Chinese population
Luo, H., Zhang, P., Zhang, W., Zheng, Y., Hao, D., Shi, Y., Niu, Y., Song, T., Li, Y., Zhao, S., et al. (2023) · 中国科学通报：英文版 · doi:10.1016/j.scib.2023.08.027 · Cited by 26 · see citing works
The cell‐free DNA virome of 108,349 Dutch pregnant women
Linthorst, J., Baksi, M. M. M., Welkers, M. R. A., & Sistermans, E. A. (2022) · Prenatal Diagnosis · doi:10.1002/pd.6143 · Cited by 26 · see citing works
China’s crackdown on genetics breaches could deter data sharing
Cyranoski, D. (2018) · Nature · doi:10.1038/d41586-018-07222-2 · Cited by 25 · see citing works
Whole-Exome Sequencing Among Chinese Patients With Hereditary Diffuse Gastric Cancer
Liu, Z., Zhang, X., Zhao, Q., Chen, Y., Sheng, H., He, C., Sun, Y., Lai, M.-Y., Wu, M., Zuo, Z., et al. (2022) · JAMA Network Open · doi:10.1001/jamanetworkopen.2022.45836 · Cited by 24 · see citing works
Self-citationZhu, D., Zhao, Y., Zhang, R., Wu, H., Cai, G., Wu, Z., Wang, Y., & Hu, X. (2023) · Genetics Selection Evolution · doi:10.1186/s12711-023-00843-w · Cited by 24 · see citing works
Zhao, P., Teng, J., Zhang, X., Wang, D., Zhang, X., Li, S., Jiang, X. P., Li, H., Ning, C., & Zhang, Q. (2021) · Frontiers in Genetics · doi:10.3389/fgene.2021.728764 · Cited by 23 · see citing works
Self-citationAncient genomes illuminate the demographic history of Shandong over the past two millennia
Shen, Q., Wu, Z., Zan, J., Yang, X., Guo, J., Ji, Z. J., Wang, B., Liu, Y., Mao, X., Wang, X., et al. (2024) · Journal of genetics and genomics/Journal of Genetics and Genomics · doi:10.1016/j.jgg.2024.07.008 · Cited by 22 · see citing works
Faas, B. H. W., Astuti, G., Melchers, W. J. G., Reuss, A., Gilissen, C., Macville, M. V. E., Ghesquiere, S. A. I., Houben, L., Srebniak, M. I., Geeven, G., et al. (2024) · EBioMedicine · doi:10.1016/j.ebiom.2024.104983 · Cited by 22 · see citing works
Globalizing the Scientific Bandwagon: Trajectories of Precision Medicine in China and Brazil
Au, L., & da Silva, R. G. L. (2020) · Science Technology & Human Values · doi:10.1177/0162243920930282 · Cited by 22 · see citing works
Linthorst, J., Nivard, M. G., & Sistermans, E. A. (2024) · Cell Reports · doi:10.1016/j.celrep.2024.114799 · Cited by 21 · see citing works
Wood, M. L., Veal, C., Neumann, R., Suárez, N. M., Nichols, J., Parker, A. J., Martin, D., Romaine, S. P. R., Codd, V., Samani, N. J., et al. (2021) · eLife · doi:10.7554/elife.70452 · Cited by 21 · see citing works
Liang, Z., Liu, H., Wang, L., Song, Q., Sun, D., Li, W., Leng, J., Gao, R., Hu, G., & Qi, L. (2020) · Mayo Clinic Proceedings · doi:10.1016/j.mayocp.2020.04.042 · Cited by 21 · see citing works
Germ-line mutations in WDR77 predispose to familial papillary thyroid cancer
Zhao, Y., Yu, T., Sun, J., Wang, F., Cheng, C., He, S.-R., Chen, L., Xie, D.-H., Fu, L., Guan, X., et al. (2021) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.2026327118 · Cited by 20 · see citing works
Tong, X., Yu, X., Du, Y., Su, F., Liu, Y., Li, H., Liu, Y., Mu, K., Liu, Q., Li, H. Z., et al. (2022) · Microbiology Spectrum · doi:10.1128/spectrum.00414-22 · Cited by 19 · see citing works
Self-citationGenetic basis of pregnancy-associated decreased platelet counts and gestational thrombocytopenia
Yang, Z., Hu, L., Zhen, J., Gu, Y., Liu, Y., Huang, S., Wei, Y., Zheng, H., Guo, X., Chen, G., et al. (2023) · Blood · doi:10.1182/blood.2023021925 · Cited by 19 · see citing works
Self-citationSun, Q., Wang, M., Lu, T., Duan, S., Liu, Y., Chen, J., Wang, Z., Sun, Y., Li, X., Wang, S., et al. (2024) · BMC Biology · doi:10.1186/s12915-024-01854-9 · Cited by 18 · see citing works
Yang, Q., Sun, Y., Duan, S., Nie, S., Liu, C., Hong, D., Wang, M., & He, G. (2025) · Genomics Proteomics & Bioinformatics · doi:10.1093/gpbjnl/qzaf022 · Cited by 21 · see citing works
Chen, S., Zhou, R., Zhang, V. W., Che, C., Feng, S., Huang, H., Liu, C.-Y., & Zou, Z. (2021) · Neurobiology of Aging · doi:10.1016/j.neurobiolaging.2021.05.017 · Cited by 19 · see citing works
Tran, N. H., Vo, T. B., Nguyen, V. T., Tran, N. T., Trinh, T. H. N., Pham, H.-A. T., Dao, T. H. T., Nguyen, N. M., Van, Y. T., Tran, V. U., et al. (2020) · Scientific Reports · doi:10.1038/s41598-020-76245-5 · Cited by 18 · see citing works
Han, X., Li, L., Yang, M., Zhang, X., Zhou, J., Zeng, J., Zhou, Y., Lan, X., Liu, J., Lin, Y. H., et al. (2024) · Cell Genomics · doi:10.1016/j.xgen.2024.100633 · Cited by 18 · see citing works
Self-citationGenome-driven Chinese precision medicine: Biobank-scale genomic research as a new paradigm
Wang, M., Duan, S., Li, X., Yang, J., Yuan, H., Liu, C., & He, G. (2025) · The Innovation Life · doi:10.59717/j.xinn-life.2025.100131 · Cited by 23 · see citing works
Efficient approaches for large-scale GWAS with genotype uncertainty
Jørsboe, E., & Albrechtsen, A. (2021) · G3 Genes Genomes Genetics · doi:10.1093/g3journal/jkab385 · Cited by 18 · see citing works
Self-citationSun, S., Aboelenain, M., Ariad, D., Haywood, M. E., Wageman, C. R., Duke, M., Bag, A., Viotti, M., Katz-Jaffe, M., McCoy, R. C., et al. (2023) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2023.11.002 · Cited by 17 · see citing works
Novel FUS mutation Y526F causing rapidly progressive familial amyotrophic lateral sclerosis
Zou, Z., Che, C., Feng, S., Fang, X.-Y., Huang, H., & Liu, C.-Y. (2020) · Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration · doi:10.1080/21678421.2020.1797815 · Cited by 17 · see citing works
Li, Z., Wang, X., Xu, D., Wang, D., Wang, D., Dai, X., Wang, Q., Li, Z., Gu, Y., Ouyang, W., et al. (2020) · Science Advances · doi:10.1126/sciadv.abb3350 · Cited by 16 · see citing works
Self-citation
- Authors
- Liu, S., Huang, S., Chen, F., Zhao, L., Yuan, Y., Francis, S. S., Fang, L., Li, Z., Lin, L., Liu, R., Zhang, Y., Xu, H., Li, S., Zhou, Y., Davies, R. W., Liu, Q., Walters, R. G., Lin, K., Ju, J., Korneliussen, T., Yang, M. A., Fu, Q., Wang, J., Zhou, L., Krogh, A., Zhang, H., Wang, W., Chen, Z., Cai, Z., Yin, Y., Yang, H., Mao, M., Shendure, J., Wang, J., Albrechtsen, A., Jin, X., Nielsen, R., & Xu, X.
- Affiliations
- BGI Group (China) (CN)
- University of Nevada, Reno (US)
- University of Chinese Academy of Sciences (CN)
- Hospital for Sick Children (CA)
- University of Oxford (GB)
- University of Cambridge (GB)
- Chinese Academy of Sciences (CN)
- University of Copenhagen (DK)
- Shenzhen University (CN)
- Howard Hughes Medical Institute (US)
- Corresponding author
- Wang, Jian
- Albrechtsen, Anders
- Jin, Xin
- Nielsen, Rasmus
- Xu, Xun
- ORCID
- Liu, Siyang
- Huang, Shujia
- Chen, Fang
- Zhao, Lijian
- Yuan, Yuying
- Francis, Stephen Starko
- Fang, Lin
- Li, Zilong
- Lin, Long
- Liu, Rong
- Zhang, Yong
- Xu, Huixin
- Li, Shengkang
- Liu, Qiang
- Walters, Robin G.
- Lin, Kuang
- Korneliussen, Thorfinn
- Yang, Melinda A.
- Fu, Qiaomei
- Wang, Jun
- Zhou, Lijun
- Krogh, Anders
- Chen, Zhengming
- Cai, Zhiming
- Mao, Mao
- Shendure, Jay
- Albrechtsen, Anders
- Jin, Xin
- Nielsen, Rasmus
- Xu, Xun
- Venue
- Cell
- Publisher
- Elsevier BV
- Published
- 2018-10
- Volume
- 175
- Issue
- 2
- Pages
- 347-359.e14
- ISSN
- 0092-8674 (ISSN-L)
- OpenAlex
- W2895710019
- Cited by
- 279
- References
- 72
- Citations by year
- 2026: 21 · 2025: 33 · 2024: 38 · 2023: 34 · 2022: 29 · 2021: 50 · 2020: 33 · 2019: 37 · 2018: 3 · 2016: 1
- FWCI
- 18.82
- Type
- journal article
- Language
- en
- Open access
- hybrid
- doi.org
- Licence
- other-oa
- www.elsevier.com/tdm/userlicense/1.0/ (tdm)
- www.elsevier.com/legal/tdmrep-license (tdm)
- www.elsevier.com/open-access/userlicense/1.0/ (vor, 368 d)
- doi.org/10.15223/policy-017 (stm-asf)
- doi.org/10.15223/policy-037 (stm-asf)
- doi.org/10.15223/policy-012 (stm-asf)
- doi.org/10.15223/policy-029 (stm-asf)
- doi.org/10.15223/policy-004 (stm-asf)
- Locations
- Cell (publishedVersion, other-oa)
- PubMed (publishedVersion)
- eScholarship (California Digital Library) (submittedVersion, cc-by-nc-nd)
- Research at the University of Copenhagen (University of Copenhagen) (submittedVersion)
- Funders
- Natural Science Foundation of Guangdong Province, China (2017A030306026)
- Funds for Distinguished Young Scholar of South China University of China (2017JQ017)
- Funds for Industrial PhD by Innovation Fund Denmark (4135-00130B)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic Associations and Epidemiology
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Forensic and Genetic Research
- Health Sciences › Medicine › Pediatrics, Perinatology and Child Health › Prenatal Screening and Diagnostics
- Keywords
- non-invasive prenatal testing, population structure, maternal age, height, body mass index, twin pregnancy, neuregulin-1, hepatitis B, human herpesvirus 6, PIWI proteins, maternal infection, genetic association
- MeSH terms
- Adult, Alleles, China, DNA, Ethnicity, Female, Gene Frequency, Genetic Testing, Genetics, Population, Humans, Pregnancy, Prenatal Diagnosis, Genetic Variation, Sequence Analysis, DNA, Genomics, Asian People, Genome-Wide Association Study, Human Migration
About these checks
Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.
Statistics and arithmetic are recomputed, not judged.
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