Human Genome Sequencing Using Unchained Base Reads on Self-Assembling DNA Nanoarrays

Initial sequencing and analysis of the human genome

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The sequence of the human genome

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Genome sequencing in microfabricated high-density picolitre reactors

Margulies, M., Egholm, M., Altman, W. E., Attiya, S., Bader, J. S., Bemben, L. A., Berka, J., Braverman, M. S., Chen, Y.-J., Chen, Z., et al. (2005) · Nature · doi:10.1038/nature03959 · Cited by 7,693

Next-generation DNA sequencing

Shendure, J., & Ji, H. (2008) · Nature Biotechnology · doi:10.1038/nbt1486 · Cited by 4,509

A second generation human haplotype map of over 3.1 million SNPs

The International HapMap Consortium (2007) · Nature · doi:10.1038/nature06258 · Cited by 4,438

Accurate whole human genome sequencing using reversible terminator chemistry

Bentley, D. R., Balasubramanian, S., Swerdlow, H. P., Smith, G. P., Milton, J., Brown, C. G., Hall, K. P., Evers, D. J., Barnes, C. L., Bignell, H. R., et al. (2008) · Nature · doi:10.1038/nature07517 · Cited by 3,684

The complete genome of an individual by massively parallel DNA sequencing

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The Diploid Genome Sequence of an Individual Human

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Mutation detection and single-molecule counting using isothermal rolling-circle amplification

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DNA sequencing of a cytogenetically normal acute myeloid leukaemia genome

Ley, T. J., Mardis, E. R., Ding, L., Fulton, B., McLellan, M. D., Chen, K., Dooling, D. J., Dunford-Shore, B. H., McGrath, S. D., Hickenbotham, M. T., et al. (2008) · Nature · doi:10.1038/nature07485 · Cited by 1,434

In vitro screening of embryos by whole-genome sequencing: now, in the future or never?

Winand, R., Hens, K., Dondorp, W., de Wert, G. M. W. R., Moreau, Y., Vermeesch, J. R., Liebaers, I., & Aerts, J. A. (2014) · Human Reproduction · doi:10.1093/humrep/deu005 · Cited by 25

Rare DEGS1 variant significantly alters de novo ceramide synthesis pathway

Blackburn, N. B., Michael, L. F., Meikle, P. J., Peralta, J. M., Mosior, M. K., McAhren, S. M., Bui, H. H., Bellinger, M. A., Giles, C., Kumar, S., et al. (2019) · Journal of Lipid Research · doi:10.1194/jlr.p094433 · Cited by 25

Novel Daptomycin Tolerance and Resistance Mutations in Methicillin-Resistant Staphylococcus aureus from Adaptive Laboratory Evolution

Sulaiman, J. E., & Lam, H. (2021) · mSphere · doi:10.1128/msphere.00692-21 · Cited by 25

Next generation sequencing methodologies--an overview.

Pickrell, W., Rees, M., & Chung, S. (2012) · Advances in Protein Chemistry and Structural Biology · doi:10.1016/b978-0-12-394287-6.00001-x · Cited by 18

Evaluating the genomic and sequence integrity of human ES cell lines; comparison to normal genomes

Funk, W. D., Labat, I., Sampathkumar, J., Gourraud, P., Oksenberg, J. R., Rosler, E. S., Steiger, D., Sheibani, N., Caillier, S. J., Stache-Crain, B., et al. (2011) · Stem Cell Research · doi:10.1016/j.scr.2011.10.001 · Cited by 27

Accurate measurement of gene copy number for human alpha-defensin DEFA1A3

Khan, F. F., Carpenter, D., Mitchell, L., Mansouri, O. A., Black, H. A., Tyson, J., & Armour, J. A. L. (2013) · BMC Genomics · doi:10.1186/1471-2164-14-719 · Cited by 26

Application of Whole Genome Sequencing Technology in the Investigation of Genetic Causes of Fetal, Perinatal, and Early Infant Death

Armes, J. E., Williams, M., Price, G. R., Wallis, T. P., Gallagher, R. L., Matsika, A., Joy, C., Galea, M. A., Gardener, G. J., Leach, R., et al. (2017) · Pediatric and Developmental Pathology · doi:10.1177/1093526617715528 · Cited by 25

Molecular Technologies Open New Clinical Genetic Vistas

Jackson, L., & Pyeritz, R. E. (2011) · Science Translational Medicine · doi:10.1126/scitranslmed.3002064 · Cited by 23

Integration of DNA sequence and DNA methylation changes in monozygotic twin pairs discordant for schizophrenia

Castellani, C. A., Melka, M. G., Gui, J. L., O’Reilly, R. L., & Singh, S. M. (2015) · Schizophrenia Research · doi:10.1016/j.schres.2015.09.021 · Cited by 24

Whole-Genome Sequencing Identifies Patient-Specific DNA Minimal Residual Disease Markers in Neuroblastoma

van Wezel, E. M., Zwijnenburg, D. A., Zappeij‐Kannegieter, L., Bus, E. W. N., van Noesel, M. M., Molenaar, J. J., Versteeg, R., Fiocco, M. F., Caron, H. N., van der Schoot, C. E., et al. (2014) · Journal of Molecular Diagnostics · doi:10.1016/j.jmoldx.2014.09.005 · Cited by 24

Reusable Nanostencils for Creating Multiple Biofunctional Molecular Nanopatterns on Polymer Substrate

Huang, M., Galarreta, B. C., Artar, A., Adato, R., Aksu, S., & Altug, H. (2012) · Nano Letters · doi:10.1021/nl302266u · Cited by 24

A novel MERTK mutation causing retinitis pigmentosa

Al-khersan, H., Shah, K. P., Jung, S. C., Rodriguez, A., Madduri, R., & Grassi, M. A. (2017) · Graefe s Archive for Clinical and Experimental Ophthalmology · doi:10.1007/s00417-017-3679-9 · Cited by 24

Familial Esophageal Squamous Cell Carcinoma with damaging rare/germline mutations in KCNJ12/KCNJ18 and GPRIN2 genes

Khalilipour, N., Baranova, A. V., Jebelli, A., Heravi‐Moussavi, A., Bruskin, S. A., & Abbaszadegan, M. R. (2017) · Cancer Genetics · doi:10.1016/j.cancergen.2017.11.011 · Cited by 23

Limited reverse transcriptase activity of phi29 DNA polymerase

Krzywkowski, T., Kühnemund, M., Wu, D., & Nilsson, M. F. (2018) · Nucleic Acids Research · doi:10.1093/nar/gky190 · Cited by 24

Antibody–nucleotide conjugate as a substrate for DNA polymerases

Balintová, J., Welter, M., & Marx, A. (2018) · Chemical Science · doi:10.1039/c8sc01839a · Cited by 24

SAGE: a comprehensive resource of genetic variants integrating South Asian whole genomes and exomes

Hariprakash, J. M., Vellarikkal, S. K., Verma, A., Ranawat, A. S., Jayarajan, R., Ravi, R., Kumar, A., Dixit, V., Sivadas, A., Kashyap, A., et al. (2018) · Database · doi:10.1093/database/bay080 · Cited by 24

Next-generation sequencing reveals novel rare fusion events with functional implication in prostate cancer

Alves, I. T., Hartjes, T. A., McClellan, E., Hiltemann, S., Böttcher, R., Dits, N. F. J., Temanni, M.-R., Janssen, B. J., van Workum, W., van der Spek, P. J., et al. (2014) · Oncogene · doi:10.1038/onc.2013.591 · Cited by 25

Genomics pipelines to investigate susceptibility in whole genome and exome sequenced data for variant discovery, annotation, prediction and genotyping

Ahmed, Z., Renart, E. G., & Zeeshan, S. (2021) · PeerJ · doi:10.7717/peerj.11724 · Cited by 23

Fighting an old disease with modern tools: characteristics and molecular detection methods of drug-resistantMycobacterium tuberculosis

Engström, A. (2015) · Scandinavian Journal of Infectious Diseases · doi:10.3109/23744235.2015.1061205 · Cited by 22

Whole Genome Sequencing Reveals a Chromosome 9p Deletion Causing DOCK8 Deficiency in an Adult Diagnosed with Hyper IgE Syndrome Who Developed Progressive Multifocal Leukoencephalopathy

Day-Williams, A., Sun, C., Jelčić, I., McLaughlin, H., Harris, T., Martinꝉ, R., & Carulli, J. P. (2014) · Journal of Clinical Immunology · doi:10.1007/s10875-014-0114-4 · Cited by 23

Abnormal Dosage of Ultraconserved Elements Is Highly Disfavored in Healthy Cells but Not Cancer Cells

McCole, R. B., Fonseka, C. Y., Koren, A., & Wu, C.-T. (2014) · PLoS Genetics · doi:10.1371/journal.pgen.1004646 · Cited by 23

Exome Sequencing Identifies Pathogenic and Modifier Mutations in a Child With Sporadic Dilated Cardiomyopathy

Long, P. A., Larsen, B. T., Evans, J. M., & Olson, T. M. (2015) · Journal of the American Heart Association · doi:10.1161/jaha.115.002443 · Cited by 23

Silicene nanoribbon as a new DNA sequencing device

Alesheikh, S., Shahtahmassebi, N., Roknabadi, M. R., & Shahri, R. P. (2017) · Physics Letters A · doi:10.1016/j.physleta.2017.12.010 · Cited by 23

Inferring sex-specific demographic history from SNP data

Clemente, F., Gautier, M., & Vitalis, R. (2018) · PLoS Genetics · doi:10.1371/journal.pgen.1007191 · Cited by 20

Exploratory data from complete genomes of familial alzheimer disease age-at-onset outliers

Lalli, M. A., Garcia, G., Madrigal, L., Arcos-Burgos, M., Arcila, M. L., Kosik, K. S., & Lopera, F. (2012) · Human Mutation · doi:10.1002/humu.22167 · Cited by 19

Whole genome sequencing as a means to assess pathogenic mutations in medical genetics and cancer

Royer‐Bertrand, B., & Rivolta, C. (2014) · Cellular and Molecular Life Sciences · doi:10.1007/s00018-014-1807-9 · Cited by 23

A Scan for Human-Specific Relaxation of Negative Selection Reveals Unexpected Polymorphism in Proteasome Genes

Somel, M., Sayres, M. A. W., Jordan, G. E., Huerta‐Sánchez, E., Fumagalli, M., Ferrer-Admetlla, A., & Nielsen, R. (2013) · Molecular Biology and Evolution · doi:10.1093/molbev/mst098 · Cited by 23

Microarrays and single molecules: an exciting combination

Howorka, S., & Hesse, J. (2014) · Soft Matter · doi:10.1039/c3sm52561a · Cited by 22

Resources for Interpreting Variants in Precision Genomic Oncology Applications

Tsang, H., Addepalli, K., & Davis, S. R. (2017) · Frontiers in Oncology · doi:10.3389/fonc.2017.00214 · Cited by 22

Diagnostic efficacy of metagenomic next generation sequencing in bronchoalveolar lavage fluid for proven invasive pulmonary aspergillosis

Jia, H., Liu, H., Tu, M., Wang, Y., Wang, X., Li, J., & Zhang, G. (2023) · Frontiers in Cellular and Infection Microbiology · doi:10.3389/fcimb.2023.1223576 · Cited by 22

Interlocus gene conversion explains at least 2.7 % of single nucleotide variants in human segmental duplications

Dumont, B. L. (2015) · BMC Genomics · doi:10.1186/s12864-015-1681-3 · Cited by 24

Next-generation sequencing approaches for genetic mapping of complex diseases

Casals, F., Idaghdour, Y., Hussin, J., & Awadalla, P. (2012) · Journal of Neuroimmunology · doi:10.1016/j.jneuroim.2011.12.017 · Cited by 26

DEFA gene variants associated with IgA nephropathy in a Chinese population

Qi, Y., Zhou, S., Cheng, F., Hou, P., Zhu, L., Shi, S., Liu, L. J., Lv, J., & Zhang, H. (2015) · Genes and Immunity · doi:10.1038/gene.2015.1 · Cited by 22

The genetics of common kidney disease: a pathway toward clinical relevance

Drawz, P. E., & Sedor, J. R. (2011) · Nature Reviews Nephrology · doi:10.1038/nrneph.2011.85 · Cited by 22

Aberrant Time to Most Recent Common Ancestor as a Signature of Natural Selection

Hunter-Zinck, H., & Clark, A. G. (2015) · Molecular Biology and Evolution · doi:10.1093/molbev/msv142 · Cited by 23

Intrahaplotypic Variants Differentiate Complex Linkage Disequilibrium within Human MHC Haplotypes

Lam, T. H., Tay, M. Z., Wang, B., Xiao, Z., & Ren, E. C. (2015) · Scientific Reports · doi:10.1038/srep16972 · Cited by 23

Current Progresses of Single Cell DNA Sequencing in Breast Cancer Research

Liu, J., Adhav, R., & Xu, X. (2017) · International Journal of Biological Sciences · doi:10.7150/ijbs.19627 · Cited by 23

A novel nicastrin mutation in a three‐generation Dutch family with hidradenitis suppurativa: a search for functional significance

Vossen, A. R. J. V., van Straalen, K. R., Swagemakers, S. M. A., de Klein, J. E. M. M., Stubbs, A., Venter, D. J., van der Zee, H. H., van der Spek, P. J., & Prens, E. P. (2020) · Journal of the European Academy of Dermatology and Venereology · doi:10.1111/jdv.16310 · Cited by 22

Phenotypic characteristics of peripheral immune cells of Myalgic encephalomyelitis/chronic fatigue syndrome via transmission electron microscopy: A pilot study

Jahanbani, F., Maynard, R. D., Sing, J., Jahanbani, S., Perrino, J. J., Spacek, D. V., Davis, R. W., & Snyder, M. P. (2022) · PLoS ONE · doi:10.1371/journal.pone.0272703 · Cited by 19

Medical DNA sequencing

Marian, A. J. (2011) · Current Opinion in Cardiology · doi:10.1097/hco.0b013e3283459857 · Cited by 21

Exome Analysis of Patients with Concurrent Pediatric Inflammatory Bowel Disease and Autoimmune Disease

Andreoletti, G., Ashton, J. J., Coelho, T. A. F., Willis, C., Haggarty, R., Gibson, J., Holloway, J. W., Batra, A., Afzal, N. A., Beattie, R. M., et al. (2015) · Inflammatory Bowel Diseases · doi:10.1097/mib.0000000000000381 · Cited by 21

Reproduction and Immunity-Driven Natural Selection in the Human WFDC Locus

Worman, Z., Seixas, S., Andrés, A. M., Kretzschmar, W. W., Mullikin, J. C., Cherukuri, P. F., Cruz, P., Swanson, W. J., Program, N. C. S., Clark, A. G., et al. (2013) · Molecular Biology and Evolution · doi:10.1093/molbev/mss329 · Cited by 22

Minimal-assumption inference from population-genomic data

Weissman, D. B., & Hallatschek, O. (2017) · eLife · doi:10.7554/elife.24836 · Cited by 21

The genetic variation in the R1a clade among the Ashkenazi Levites’ Y chromosome

Behar, D. M., Saag, L., Karmin, M., Gover, M. G., Wexler, J. D., Sanchez, L. F., Greenspan, E., Kushniarevich, A., Davydenko, O. G., Sahakyan, H., et al. (2017) · Scientific Reports · doi:10.1038/s41598-017-14761-7 · Cited by 21

Whole genome sequencing of extreme phenotypes identifies variants in CD101 and UBE2V1 associated with increased risk of sexually acquired HIV-1

Mackelprang, R. D., Bamshad, M. J., Chong, J. X., Hou, X., Buckingham, K. J., Shively, K. M., de Bruyn, G., Mugo, N., Mullins, J. I., McElrath, M. J., et al. (2017) · PLoS Pathogens · doi:10.1371/journal.ppat.1006703 · Cited by 21

High-depth whole genome sequencing of an Ashkenazi Jewish reference panel: enhancing sensitivity, accuracy, and imputation

Lencz, T., Yu, J., Palmer, C. D., Carmi, S., Ben‐Avraham, D., Barzilai, N., Bressman, S., Darvasi, A., Cho, J. H., Clark, L. N., et al. (2018) · Human Genetics · doi:10.1007/s00439-018-1886-z · Cited by 22

Influence of Oligonucleotide Grafting Density on Surface-Mediated DNA Transport and Hybridization

Traeger, J. C., Lamberty, Z. D., & Schwartz, D. K. (2019) · ACS Nano · doi:10.1021/acsnano.9b02157 · Cited by 21

Co-barcoded sequence reads from long DNA fragments: a cost-effective solution for “perfect genome” sequencing

Peters, B. A., Liu, J., & Drmanac, R. (2015) · Frontiers in Genetics · doi:10.3389/fgene.2014.00466 · Cited by 20

The whole genome sequences and experimentally phased haplotypes of over 100 personal genomes

Mao, Q., Ciotlos, S., Zhang, R. Y., Ball, M. P., Chin, R. G., Carnevali, P., Barua, N., Nguyen, S., Agarwal, M. R., Clegg, T., et al. (2016) · GigaScience · doi:10.1186/s13742-016-0148-z · Cited by 19

Solving genomic puzzles: computational methods for metagenomic binning

Mallawaarachchi, V., Wickramarachchi, A., Xue, H., Papudeshi, B., Grigson, S., Bouras, G., Prahl, R. E., Kaphle, A., Verich, A., Talamantes-Becerra, B., et al. (2024) · Briefings Bioinform. · doi:10.1093/bib/bbae372 · Cited by 18

Whole Genome Sequence, Variant Discovery and Annotation in Mapuche-Huilliche Native South Americans

Vidal, E. A., Moyano, T. C., Bustos, B. I., Pérez‐Palma, E., Moraga, C., Riveras, E., Montecinos, A., Azócar, L., Soto, D. C., Vidal, M., et al. (2019) · Scientific Reports · doi:10.1038/s41598-019-39391-z · Cited by 19

A multiplex platform for digital measurement of circular DNA reaction products

Björkesten, J., Patil, S., Fredolini, C., Lönn, P., & Landegren, U. D. (2020) · Nucleic Acids Research · doi:10.1093/nar/gkaa419 · Cited by 19

Human whole genome sequencing in South Africa

Glanzmann, B., Jooste, T., Ghoor, S., Gordon, R. K., Mia, R., Mao, J. X., Li, H., Charls, P., Douman, C., Kotze, M. J., et al. (2021) · Scientific Reports · doi:10.1038/s41598-020-79794-x · Cited by 20

Structures, activity and mechanism of the Type IIS restriction endonuclease PaqCI

Kennedy, M. A., Hosford, C. J., Azumaya, C. M., Luyten, Y. A., Chen, M., Morgan, R., & Stoddard, B. L. (2023) · Nucleic Acids Research · doi:10.1093/nar/gkad228 · Cited by 20

Using Mendelian inheritance errors as quality control criteria in whole genome sequencing data set

Pilipenko, V. V., He, H., Kurowski, B. G., Alexander, E. S., Zhang, X., Ding, L., Baye, T. M., Kottyan, L. C., Fardo, D. W., & Martin, L. J. (2014) · BMC Proceedings · doi:10.1186/1753-6561-8-s1-s21 · Cited by 20

Whole Genome Sequence Analysis Suggests Intratumoral Heterogeneity in Dissemination of Breast Cancer to Lymph Nodes

Blighe, K., Kenny, L. M., Patel, N. R., Guttery, D. S., Page, K., Gronau, J. H., Golshani, C., Stebbing, J., Coombes, R. C., & Shaw, J. (2014) · PLoS ONE · doi:10.1371/journal.pone.0115346 · Cited by 21

Are we Genomic Mosaics? Variations of the Genome of Somatic Cells can Contribute to Diversify our Phenotypes

Astolfi, P., Salamini, F., & Sgaramella, V. (2010) · Current Genomics · doi:10.2174/138920210793175949 · Cited by 20

Deciphering the genetic architecture of low-penetrance susceptibility to colorectal cancer

Whiffin, N., Dobbins, S. E., Hosking, F. J., Palles, C., Tenesa, A., Wang, Y., Farrington, S. M., Jones, A. M., Broderick, P., Campbell, H., et al. (2013) · Human Molecular Genetics · doi:10.1093/hmg/ddt357 · Cited by 20

Adult Genetic Risk Screening

Caskey, C. T., Gonzalez‐Garay, M. L., Pereira, S., & McGuire, A. L. (2013) · Annual Review of Medicine · doi:10.1146/annurev-med-111212-144716 · Cited by 19

Genetic pleiotropy between mood disorders, metabolic, and endocrine traits in a multigenerational pedigree

Kember, R. L., Hou, L., Ji, X., Andersen, L. H., Ghorai, A., Estrella, L., Almasy, L. A., McMahon, F. J., Brown, C. D., & Bućan, M. (2018) · Translational Psychiatry · doi:10.1038/s41398-018-0226-3 · Cited by 21

Sequencing by ligation variation with endonuclease V digestion and deoxyinosine-containing query oligonucleotides

Ho, A., Murphy, M. H., Wilson, S. M., Atlas, S. R., & Edwards, J. S. (2011) · BMC Genomics · doi:10.1186/1471-2164-12-598 · Cited by 20

Linkage disequilibrium based genotype calling from low-coverage shotgun sequencing reads

Duitama, J., Kennedy, J., Dinakar, S., Hernandez, Y. A., Wu, Y., & Măndoiu, I. (2011) · BMC Bioinformatics · doi:10.1186/1471-2105-12-s1-s53 · Cited by 20

Sequencing approaches

Ungelenk, M. (2021) · Elsevier eBooks · doi:10.1016/b978-0-12-823579-9.00021-7 · Cited by 19

Germline intergenic duplications at Xq26.1 underlie Bazex–Dupré–Christol basal cell carcinoma susceptibility syndrome *

Liu, Y.-S., Banka, S., Huang, Y., Hardman-Smart, J., Pye, D., Torrelo, A., Beaman, G., Kazanietz, M., Baker, M. J., Ferrazzano, C., et al. (2022) · British Journal of Dermatology · doi:10.1111/bjd.21842 · Cited by 18

On Non-cooperative Genomic Privacy

Humbert, M., Ayday, E., Hubaux, J., & Telenti, A. (2015) · Lecture notes in computer science · doi:10.1007/978-3-662-47854-7_24 · Cited by 19

Detection of identity by descent using next-generation whole genome sequencing data

Su, S.-Y., Kasberger, J., Baranzini, S. E., Byerley, W., Liao, W. J., Oksenberg, J. R., Sherr, E. H., & Jorgenson, E. (2012) · BMC Bioinformatics · doi:10.1186/1471-2105-13-121 · Cited by 19

HD-CNV: hotspot detector for copy number variants

Butler, J., Locke, M. E. O., Hill, K. A., & Daley, M. (2012) · Bioinformatics · doi:10.1093/bioinformatics/bts650 · Cited by 19

Exome Sequencing Analysis: A Guide to Disease Variant Detection

Isakov, O., Perrone, M. E., & Shomron, N. (2013) · Methods in molecular biology · doi:10.1007/978-1-62703-514-9_8 · Cited by 19

Familial Ebstein Anomaly

Mercer, C. L., Andreoletti, G., Carroll, A., Salmon, A. P., Temple, I. K., & Ennis, S. (2017) · Circulation Cardiovascular Genetics · doi:10.1161/circgenetics.116.001683 · Cited by 19

Patients with SATB2‐associated syndrome exhibiting multiple odontomas

Kikuiri, T., Mishima, H., Imura, H., Suzuki, S., Matsuzawa, Y., Nakamura, T., Fukumoto, S., Yoshimura, Y., Watanabe, S., Kinoshita, A., et al. (2018) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.40670 · Cited by 19

Rare ABCA7 variants in 2 German families with Alzheimer disease

May, P., Pichler, S., Hartl, D., Bobbili, D. R., Mayhaus, M., Spaniol, C., Kurz, A., Balling, R., Schneider, J. G., & Riemenschneider, M. (2018) · Neurology Genetics · doi:10.1212/nxg.0000000000000224 · Cited by 18

Technological advances in DNA sequence enrichment and sequencing for germline genetic diagnosis

Ku, C., Wu, M., Cooper, D. N., Naidoo, N., Yudi Pawitan, Y., Pang, B., Iacopetta, B. J., & Soong, R. (2012) · Expert Review of Molecular Diagnostics · doi:10.1586/erm.11.95 · Cited by 18

Modeling SNP array ascertainment with Approximate Bayesian Computation for demographic inference

Quinto-Cortés, C. D., Woerner, A. E., Watkins, J. C., & Hammer, M. F. (2018) · Scientific Reports · doi:10.1038/s41598-018-28539-y · Cited by 19

The genome of the endangered Macadamia jansenii displays little diversity but represents an important genetic resource for plant breeding

Sharma, P., Murigneux, V., Haimovitz, J., Nock, C. J., Tian, W., Masouleh, A. K., Topp, B. L., Alam, M. M., Furtado, A., & Henry, R. J. (2021) · Plant Direct · doi:10.1002/pld3.364 · Cited by 18

Genome-wide gene–gene interaction analysis for next-generation sequencing

Zhao, J., Zhu, Y., & Xiong, M. (2015) · European Journal of Human Genetics · doi:10.1038/ejhg.2015.147 · Cited by 18

The humankind genome: from genetic diversity to the origin of human diseases

Belizário, J. E. (2013) · Genome · doi:10.1139/gen-2013-0125 · Cited by 19

Distinct Patterns of Genetic Variations in Potential Functional Elements in Long Noncoding RNAs

Bhartiya, D., Jalali, S., Ghosh, S., & Scaria, V. (2013) · Human Mutation · doi:10.1002/humu.22472 · Cited by 20

A population-specific reference panel empowers genetic studies of Anabaptist populations

Hou, L., Kember, R. L., Roach, J. C., O’Connell, J. R., Craig, D. W., Bućan, M., Scott, W. K., Pericak‐Vance, M. A., Haines, J. L., Crawford, M. H., et al. (2017) · Scientific Reports · doi:10.1038/s41598-017-05445-3 · Cited by 18

The application of NIPT using combinatorial probe-anchor synthesis to identify sex chromosomal aneuploidies (SCAs) in a cohort of 570 pregnancies

Li, H., Yu, L., Zhu, H., Luo, Y., Qian, Y., Chen, M., Sun, Y., Yan, K., Yang, Y., Liu, B., et al. (2018) · Molecular Cytogenetics · doi:10.1186/s13039-018-0407-z · Cited by 18

diCal-IBD: demography-aware inference of identity-by-descent tracts in unrelated individuals

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Transcriptome signature changes in the liver of a migratory passerine

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Inference of Evolutionary Forces Acting on Human Biological Pathways

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DNA Origami Nanostructures with Scaffolds Obtained from Rolling Circle Amplification

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Rosetta Brains: A Strategy for Molecularly-Annotated ConnectomicsPreprint

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On the design of clone-based haplotyping

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Manifold Learning for Human Population Structure Studies

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Classification of primary immunodeficiency disorders: One-fits-all does not help anymore

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TIARA: a database for accurate analysis of multiple personal genomes based on cross-technology

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A genome‐wide linkage scan of bipolar disorder in Latino families identifies susceptibility loci at 8q24 and 14q32

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Human Genome Sequencing Using Unchained Base Reads on Self-Assembling DNA

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Genome sequencing on nanoballs

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