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

Initial sequencing and analysis of the human genome

International Human Genome Sequencing Consortium, Whitehead Institute for Biomedical Research, C. F. G. R., Lander, E. S., Linton, L. M., Birren, B., Nusbaum, C., Zody, M. C., Baldwin, J., Devon, K., Dewar, K., et al. (2001) · Nature · doi:10.1038/35057062 · Cited by 24,216

The sequence of the human genome

Venter, J. C., Adams, M. D., Myers, E. W., Li, P. W., Mural, R. J., Sutton, G. G., Smith, H. O., Yandell, M., Evans, C. A., Holt, R. A., et al. (2001) · Science · doi:10.1126/science.1058040 · Cited by 13,909

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

Wheeler, D. A., Srinivasan, M., Egholm, M., Shen, Y., Chen, L., McGuire, A., He, W., Chen, Y.-J., Makhijani, V., Roth, G. T., et al. (2008) · Nature · doi:10.1038/nature06884 · Cited by 1,838

The Diploid Genome Sequence of an Individual Human

Levy, S., Sutton, G., Ng, P. C., Feuk, L., Halpern, A. L., Walenz, B. P., Axelrod, N., Huang, J., Kirkness, E. F., Denisov, G., et al. (2007) · PLoS Biology · doi:10.1371/journal.pbio.0050254 · Cited by 1,778

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

Lizardi, P. M., Huang, X. C., Zhu, Z., Bray‐Ward, P., Thomas, D. C., & Ward, D. C. (1998) · Nature Genetics · doi:10.1038/898 · Cited by 1,443

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

Barcode‐modifizierte Nukleotide

Baccaro, A., Steck, A., & Marx, A. (2011) · Angewandte Chemie · doi:10.1002/ange.201105717 · Cited by 16

The niche in single‐cell technologies

Donati, G. (2015) · Immunology and Cell Biology · doi:10.1038/icb.2015.107 · Cited by 16

A characterization of postzygotic mutations identified in monozygotic twins

Ouwens, K. G., Jansen, R., Tolhuis, B., Slagboom, P. E., Penninx, B. W. J. H., & Boomsma, D. I. (2018) · Human Mutation · doi:10.1002/humu.23586 · Cited by 15

Genome-wide identification of microRNAs involved in the somatic embryogenesis of Eucalyptus

Qin, Z., Li, J., Zhang, Y., Xiao, Y., Zhang, X., Zhong, L., Liu, H., & Chen, B. (2021) · G3 Genes Genomes Genetics · doi:10.1093/g3journal/jkab070 · Cited by 16

Discovery of genomic variation across a generation

Trost, B., Loureiro, L. O., & Scherer, S. W. (2021) · Human Molecular Genetics · doi:10.1093/hmg/ddab209 · Cited by 20

Clinical and histological findings of autosomal dominant renal‐limited disease with LMX1B mutation

Konomoto, T., Imamura, H., Orita, M., Tanaka, E., Moritake, H., Sato, Y., Fujimoto, S., Harita, Y., Hisano, S., Yoshiura, K., et al. (2015) · Nephrology · doi:10.1111/nep.12666 · Cited by 16

An improved understanding of cancer genomics through massively parallel sequencing.

Teer, J. K. (2014) · PubMed · doi:10.3978/j.issn.2218-676x.2014.05.05 · Cited by 16

Decoding Genomes at High Speed: Implications for Science and Medicine

Balasubramanian, S. (2011) · Angewandte Chemie International Edition · doi:10.1002/anie.201106707 · Cited by 15

SAHG, a comprehensive database of predicted structures of all human proteins

Motono, C., Nakata, J., Koike, R., Shimizu, K., Shirota, M., Amemiya, T., Tomii, K., Nagano, N., Sakaya, N., Misoo, K., et al. (2010) · Nucleic Acids Research · doi:10.1093/nar/gkq1057 · Cited by 15

Pathogenic variants in the paired-related homeobox 1 gene (PRRX1) cause craniosynostosis with incomplete penetrance

Tooze, R. S., Miller, K. A., Swagemakers, S. M. A., Calpena, E., McGowan, S. J., Boute, O., Collet, C., Johnson, D. H., Laffargue, F., de Leeuw, N., et al. (2023) · Genetics in Medicine · doi:10.1016/j.gim.2023.100883 · Cited by 15

Airborne DNA: State of the art – Established methods and missing pieces in the molecular genetic detection of airborne microorganisms, viruses and plant particles

Pogner, C., Antunes, C. M., Apangu, G., Bruffaerts, N., Çelenk, S., Cristofori, A., Roldán, N. G., Grinn‐Gofroń, A., Lara, B., Lika, M., et al. (2024) · The Science of The Total Environment · doi:10.1016/j.scitotenv.2024.177439 · Cited by 23

Exome Sequencing and Advances in Crop Improvement

Singh, D. V., Singh, P. K., Chaudhary, S., Mehla, K., & Kumar, S. B. (2012) · Advances in genetics · doi:10.1016/b978-0-12-394395-8.00003-7 · Cited by 16

Whole genome sequences are required to fully resolve the linkage disequilibrium structure of human populations

Pengelly, R. J., Tapper, W., Gibson, J., Knut, M., Tearle, R. G., Collins, A. R., & Ennis, S. (2015) · BMC Genomics · doi:10.1186/s12864-015-1854-0 · Cited by 15

AMMECR1: a single point mutation causes developmental delay, midface hypoplasia and elliptocytosis

Andreoletti, G., Seaby, E. G., Dewing, J. M., O'Kelly, I., Lachlan, K. L., Gilbert, R. D., & Ennis, S. (2016) · Journal of Medical Genetics · doi:10.1136/jmedgenet-2016-104100 · Cited by 15

Personalized Medicine: The Future of Health Care

Meiliana, A., Dewi, N. M., & Wijaya, A. (2016) · The Indonesian Biomedical Journal · doi:10.18585/inabj.v8i3.271 · Cited by 15

Evaluating Rare Variants in Complex Disorders Using Next-Generation Sequencing

Ezewudo, M. N., & Zwick, M. E. (2013) · Current Psychiatry Reports · doi:10.1007/s11920-013-0349-4 · Cited by 16

Landscape of Insertion Polymorphisms in the Human Genome

Onozawa, M., Goldberg, L., & Aplan, P. D. (2015) · Genome Biology and Evolution · doi:10.1093/gbe/evv043 · Cited by 15

Post‐zygotic genomic changes in glutamate and dopamine pathway genes may explain discordance of monozygotic twins for schizophrenia

Castellani, C. A., Melka, M. G., Gui, J. L., Gallo, A. J., O’Reilly, R. L., & Singh, S. M. (2017) · Clinical and Translational Medicine · doi:10.1186/s40169-017-0174-1 · Cited by 14

Untreated PKU patients without intellectual disability: SHANK gene family as a candidate modifier

Klaassen, K., Djordjevic, M., Skakić, A., Kecman, B., Drmanac, R., Pavlović, S., & Stojiljković, M. (2021) · Molecular Genetics and Metabolism Reports · doi:10.1016/j.ymgmr.2021.100822 · Cited by 14

Current Advances in Nanotechnology for the Next Generation of Sequencing (NGS)

Bracamonte, A. G. (2023) · Biosensors · doi:10.3390/bios13020260 · Cited by 14

Alpha-defensin DEFA1A3 gene copy number variation in Asians and its genetic association study in Chinese systemic lupus erythematosus patients

Cheng, F., Zhou, S., Zhao, Y., Zhao, M., & Zhang, H. (2013) · Gene · doi:10.1016/j.gene.2013.01.011 · Cited by 14

Reducing False-Positive Incidental Findings with Ensemble Genotyping and Logistic Regression Based Variant Filtering Methods

Hwang, K., Lee, I., Park, J., Hambuch, T. M., Choe, Y., Kim, M., Lee, K., Song, T., Neu, M. B., Gupta, N., et al. (2014) · Human Mutation · doi:10.1002/humu.22587 · Cited by 15

False Negatives Are a Significant Feature of Next Generation Sequencing CallsetsPreprint

Bobo, D., Lipatov, M., Rodríguez-Flores, J. L., Auton, A., & Henn, B. M. (2016) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/066043 · Cited by 15

CoolMPS ™ : Advanced massively parallel sequencing using antibodies specific to each natural nucleobasePreprint

Drmanac, S., Callow, M. J., Chen, L., Zhou, P., Eckhardt, L., Xu, C., Gong, M., Gablenz, S., Rajagopal, J., Yang, Q. Y., et al. (2020) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/2020.02.19.953307 · Cited by 14

Amyloid-beta glycation induces neuronal mitochondrial dysfunction and Alzheimer’s pathogenesis via VDAC1-dependent mtDNA efflux

Akhter, F., Akhter, A., Zhu, X., Schiff, H. C., Maffei, A., Douglas, J. T., Zhou, Q., Zhao, Z., & Zhu, D. (2025) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.2505046122 · Cited by 16

The genetic landscape of autism spectrum disorder in the Middle Eastern population

Al-Sarraj, Y. A., Taha, R. Z., Al‐Dous, E., Ahram, D. F., Abbasi, S., Abuazab, E., Shaath, H., Habbab, W., Errafii‬, K., Bejaoui, Y., et al. (2024) · Frontiers in Genetics · doi:10.3389/fgene.2024.1363849 · Cited by 14

Liquid-bridge breakup in contact-drop dispensing: Liquid-bridge stability with a free contact line

Akbari, A., Hill, R. J., & van de Ven, T. G. M. (2015) · Physical Review E · doi:10.1103/physreve.92.022404 · Cited by 13

Identification of causative variants in TXNL4A in Burn-McKeown syndrome and isolated choanal atresia

Goos, J. A. C., Swagemakers, S. M. A., Twigg, S. R. F., van Dooren, M. F., Hoogeboom, A. J. M., Beetz, C., Günther, S., Magielsen, F. J., Ockeloen, C. W., Ramos‐Arroyo, M. A., et al. (2017) · European Journal of Human Genetics · doi:10.1038/ejhg.2017.107 · Cited by 13

Clinical Massively Parallel Sequencing

Gao, G., & Smith, D. I. (2019) · Clinical Chemistry · doi:10.1373/clinchem.2019.303305 · Cited by 14

Temporal persistence of residual fetal cell‐free DNA from a deceased cotwin after selective fetal reduction in dichorionic diamniotic twin pregnancies

Chen, M., Su, F., Wang, J., Zhou, L., Liu, Q., Chai, X., Yuan, Y., Cen, M., Wu, Y., Wang, Y., et al. (2021) · Prenatal Diagnosis · doi:10.1002/pd.5898 · Cited by 13

Approach to genetic diagnosis of inborn errors of immunity through next-generation sequencing

Karimi, E., Mahmoudian, F., Reyes, S. O. L., Bargir, U. A., Madkaikar, M. R., Artaç, H., Sabzevari, A., Lü, N., Azizi, G., & Abolhassani, H. (2021) · Molecular Immunology · doi:10.1016/j.molimm.2021.06.018 · Cited by 14

BEGOMOVIRUSES AND BETASATELLITES ASSOCIATED WITH CLCuD

Yaqoob, S., Fatima, N., Khan, S., Ali, Q., Hafeez, M., & Malik, A. (2020) · Biological and Clinical Sciences Research Journal · doi:10.54112/bcsrj.v2020i1.2 · Cited by 13

Whole-Genome Sequencing-Based Resistome Analysis of Nosocomial Multidrug-Resistant Non-Fermenting Gram-Negative Pathogens from the Balkans

Peykov, S. Z., & Strateva, T. (2023) · Microorganisms · doi:10.3390/microorganisms11030651 · Cited by 12

A real-time decoding sequencing based on dual mononucleotide addition for cyclic synthesis

Pu, D., Qi, Y., Cui, L., Xiao, P., & Lu, Z. (2014) · Analytica Chimica Acta · doi:10.1016/j.aca.2014.09.009 · Cited by 13

Detecting Past Positive Selection through Ongoing Negative Selection

Bazykin, G. A., & Kondrashov, A. S. (2011) · Genome Biology and Evolution · doi:10.1093/gbe/evr086 · Cited by 15

Time for the zebrafish ENCODE

Sivasubbu, S., Sachidanandan, C., & Scaria, V. (2013) · Journal of Genetics · doi:10.1007/s12041-013-0313-4 · Cited by 12

The Paternal Landscape along the Bight of Benin – Testing Regional Representativeness of West-African Population Samples Using Y-Chromosomal Markers

Larmuseau, M., Vessi, A., Jobling, M. A., Geystelen, A. V., Primativo, G., Biondi, G., Martínez‐Labarga, C., Ottoni, C., Decorte, R., & Rickards, O. (2015) · PLoS ONE · doi:10.1371/journal.pone.0141510 · Cited by 12

CXorf56, a dendritic neuronal protein, identified as a new candidate gene for X-linked intellectual disability

Verkerk, A. J. M. H., Zeidler, S., Breedveld, G. J., Overbeek, L., Huigh, D., Koster, L., van der Linde, H., de Esch, C. E. F., Severijnen, L.-A. W. F. M., Vries, B. B. A. D., et al. (2018) · European Journal of Human Genetics · doi:10.1038/s41431-017-0051-9 · Cited by 13

Genetic counselors' ( GC ) knowledge, awareness, understanding of clinical next‐generation sequencing ( NGS ) genomic testing

Boland, P. M., Ruth, K., Matro, J. M., Rainey, K., Fang, C. Y., Wong, Y., Daly, M. B., & Hall, M. J. (2014) · Clinical Genetics · doi:10.1111/cge.12555 · Cited by 13

Removal of Transgenes and Evaluation of Yield Penalties in Genome Edited Bacterial Blight Resistant Rice Varieties

Loo, E. P. I., Huguet‐Tapia, J. C., Selvaraj, M. G., Stiebner, M., Killing, B., Buchholzer, M., Schepler‐Luu, V., Hartwig, T., Gutierrez, S. P. V., Rast-Somssich, M. I., et al. (2025) · Plant Biotechnology Journal · doi:10.1111/pbi.70332 · Cited by 12

From nature to engineering: translational progress in biological, biomimetic, and bioinspired nanomaterials for next-generation technologies

Kashyap, V., Sarkar, M., Singh, N., Singh, A. K., Verma, D., Bhatia, D. D., & Yadav, A. K. (2026) · Progress in Materials Science · doi:10.1016/j.pmatsci.2026.101684 · Cited by 12

The Germline and Somatic Origins of Prostate Cancer Heterogeneity

Yamaguchi, T. N., Houlahan, K. E., Zhu, H., Kurganovs, N. J., Livingstone, J. M., Fox, N. S., Yuan, J., Penington, J. S., Jung, C.-H., Schwarz, T., et al. (2025) · Cancer Discovery · doi:10.1158/2159-8290.cd-23-0882 · Cited by 13

Single-cell sequencing-based study of ferroptosis mechanisms in heat stroke: identification of key biomarkers and dynamic analysis of the immune microenvironment

Yin, D., Guo, Q., Jiang, H., Hu, Y., Liu, L., Li, X., Wang, C., Li, S., Jin, K., & Hu, Y. (2025) · BMC Medical Genomics · doi:10.1186/s12920-025-02188-3 · Cited by 12

Comprehensive whole-genome sequencing of an early-stage primary myelofibrosis patient defines low mutational burden and non-recurrent candidate genes

Merker, J. D., Roskin, K. M., Ng, D., Pan, C., Fisk, D. G., King, J. M., Hoh, R. A., Stadler, M. R., Okumoto, L. M., Abidi, P., et al. (2013) · Haematologica · doi:10.3324/haematol.2013.092379 · Cited by 11

Hierarchical molecular tagging to resolve long continuous sequences by massively parallel sequencing

Lundin, S., Gruselius, J., Nystedt, B., Lexow, P., Käller, M., & Lundeberg, J. (2013) · Scientific Reports · doi:10.1038/srep01186 · Cited by 12

DNA-GPS: A theoretical framework for optics-free spatial genomics and synthesis of current methods

Greenstreet, L., Afanassiev, A., Kijima, Y., Heitz, M., Ishiguro, S., King, S. B., Yachie, N., & Schiebinger, G. R. (2023) · Cell Systems · doi:10.1016/j.cels.2023.08.005 · Cited by 15

Sequencing’s New Race

Podolak, E. (2010) · BioTechniques · doi:10.2144/000113371 · Cited by 12

Patterns of variation in cis-regulatory regions: examining evidence of purifying selection

Naidoo, T., Sjödin, P., Schlebusch, C. M., & Jakobsson, M. (2018) · BMC Genomics · doi:10.1186/s12864-017-4422-y · Cited by 15

SEQdata-BEACON: a comprehensive database of sequencing performance and statistical tools for performance evaluation and yield simulation in BGISEQ-500

Zhou, Y. R., Liu, C., Zhou, R., Lu, A., Huang, B., Liu, L., Chen, L., Luo, B., Huang, J., & Tian, Z. (2019) · BioData Mining · doi:10.1186/s13040-019-0209-9 · Cited by 12

Netrin‐G2 dysfunction causes a Rett‐like phenotype with areflexia

Heimer, G., van Woerden, G. M., Barel, O., Marek‐Yagel, D., Kol, N., Munting, J. B., Borghei, M., Atawneh, O., Nissenkorn, A., Rechavi, G., et al. (2019) · Human Mutation · doi:10.1002/humu.23945 · Cited by 10

Chromosome-Level Comprehensive Genome of Mangrove Sediment-Derived Fungus Penicillium variabile HXQ-H-1

Peng, L., Li, L., Liu, X., Chen, J., Shi, C., Guo, W., Xu, Q., Fan, G., Liu, X., & Li, D. (2019) · Journal of Fungi · doi:10.3390/jof6010007 · Cited by 12

Cytogenetic and molecular genetic methods for chromosomal translocations detection with reference to the KMT2A/MLL gene

Lomov, N. A., Zerkalenkova, E., Lebedeva, S., Viushkov, V. S., & Rubtsov, M. A. (2020) · Critical Reviews in Clinical Laboratory Sciences · doi:10.1080/10408363.2020.1844135 · Cited by 12

Trypanosoma cruzi Modulates PIWI-Interacting RNA Expression in Primary Human Cardiac Myocytes during the Early Phase of Infection

Rayford, K. J., Cooley, A., Arun, A., Rachakonda, G., Kleschenko, Y., Villalta, F., Pratap, S., Lima, M. F., & Nde, P. N. (2020) · International Journal of Molecular Sciences · doi:10.3390/ijms21249439 · Cited by 12

Fluorescent Structural DNA Nanoballs Functionalized with Phosphate-Linked Nucleotide Triphosphates

Anderson, J. P., Reynolds, B., Baum, K., & Williams, J. G. (2010) · Nano Letters · doi:10.1021/nl9039718 · Cited by 12

From local structure to a global framework: recognition of protein folds

Joseph, A. P., & de Brevern, A. G. (2014) · Journal of The Royal Society Interface · doi:10.1098/rsif.2013.1147 · Cited by 13

DNA Sequencing: Methods and Applications

Bisht, S. S., & Panda, A. K. (2013) · Springer eBooks · doi:10.1007/978-81-322-1554-7_2 · Cited by 12

Nucleic-Acid Sequencing

Dorado, G., Gálvez, S., Budak, H., Ünver, T., & Hernández, P. (2015) · Elsevier eBooks · doi:10.1016/b978-0-12-801238-3.08998-4 · Cited by 12

An efficient large‐scale whole‐genome sequencing analyses practice with an average daily analysis of 100Tbp: ZBOLT

Li, Z., Xie, Y., Zeng, W., Huang, Y., Gu, S., Gao, Y. M., Huang, W., Lu, L., Wang, X., Wu, J., et al. (2023) · Clinical and Translational Discovery · doi:10.1002/ctd2.252 · Cited by 9

Innovations in Short-Read Sequencing Technologies and Their Applications to Clinical Genomics

Polonis, K., Blommel, J. H., Hughes, A. E. O., Spencer, D. H., Thompson, J. A., & Schroeder, M. C. (2025) · Clinical Chemistry · doi:10.1093/clinchem/hvae173 · Cited by 11

Metagenomic analysis reveals environmental drivers of Actinobacteriota-associated antibiotic resistance and biosynthetic genes in colombian caribbean resource islands

Camargo-Montoya, L., Leal, L., Arenas, N. E., Franco, D. C., Valero-Valero, N., & Vanegas, J. (2025) · Journal of Arid Environments · doi:10.1016/j.jaridenv.2025.105431 · Cited by 11

Missense mutation in the MEN1 gene discovered through whole exome sequencing co-segregates with familial hyperparathyroidism

Isakov, O., Rinella, E. S., Olchovsky, D., Shimon, I., D, H. O. M., Shomron, N., & Friedman, E. (2013) · Genetics Research · doi:10.1017/s0016672313000141 · Cited by 11

Mutation profile of SARS-CoV-2 genome in a sample from the first year of the pandemic in Colombia

Gálvez, J. M., Chaparro-Solano, H. M., Pinzón-Rondón, Á. M., Albornóz, L. L., Oviedo, J. M. P., Zapata-Gómez, F. A., Patiño-Aldana, A. F., Hernandez-Rodríguez, A. D., Quiroz, M. A. D., & Ruiz-Sternberg, Á. M. (2021) · Infection Genetics and Evolution · doi:10.1016/j.meegid.2021.105192 · Cited by 11

Exploring molecular biology in sequence space: The road to next-generation single-molecule biophysics

Severins, I., Joo, C., & van Noort, J. (2022) · Molecular Cell · doi:10.1016/j.molcel.2022.04.024 · Cited by 11

Single molecule DNA origami nanoarrays with controlled protein orientation

Cervantes‐Salguero, K., Freeley, M., Gwyther, R. E. A., Jones, D. D., Chávez, J. L., & Palma, M. (2022) · Biophysics Reviews · doi:10.1063/5.0099294 · Cited by 11

Comparison of three massively parallel sequencing platforms for single nucleotide polymorphism (SNP) genotyping in forensic genetics

Li, R., Wang, Q., Yang, J., Zhu, J., Liu, J., Wu, R., & Sun, H. (2023) · International Journal of Legal Medicine · doi:10.1007/s00414-023-03035-9 · Cited by 11

Patient-controlled encrypted genomic data: an approach to advance clinical genomics

Trakadis, Y. J. (2012) · BMC Medical Genomics · doi:10.1186/1755-8794-5-31 · Cited by 11

Whole genome sequencing of a dizygotic twin suggests a role for the serotonin receptor HTR7 in autism spectrum disorder

Helsmoortel, C., Swagemakers, S. M. A., Vandeweyer, G., Stubbs, A., Palli, I., Mortier, G. R., Kooy, R. F., & van der Spek, P. J. (2016) · American Journal of Medical Genetics Part B Neuropsychiatric Genetics · doi:10.1002/ajmg.b.32473 · Cited by 11

Soft tissue tumor with novel NR1D1-MAML1 fusion in a pediatric case

Komatsu, M., Yamamoto, N., Kawamoto, T., Kawakami, Y., Hara, H., Uemura, S., Nishimura, N., Akisue, T., Kuroda, R., Iijima, K., et al. (2020) · Archiv für Pathologische Anatomie und Physiologie und für Klinische Medicin · doi:10.1007/s00428-020-02838-0 · Cited by 11

The role of ketogenesis in the migratory fattening of the northern wheatear Oenanthe oenanthe

Frias-Soler, R. C., Kelsey, N. A., Pildaín, L. V., Wink, M., & Bairlein, F. (2021) · Biology Letters · doi:10.1098/rsbl.2021.0195 · Cited by 11

Harmane Potentiates Nicotine Reinforcement Through MAO-A Inhibition at the Dose Related to Cigarette Smoking

Ding, Z., Li, X., Chen, H., Hou, H., & Hu, Q. (2022) · Frontiers in Molecular Neuroscience · doi:10.3389/fnmol.2022.925272 · Cited by 11

Polymorphism of transglutaminase 2: unusually low frequency of genomic variants with deficient functions

Király, R., Barta, E., & Fésüs, L. (2011) · Amino Acids · doi:10.1007/s00726-011-1194-6 · Cited by 11

DNA sequencing methods in human genetics and disease research

Lehrach, H. (2013) · F1000Prime Reports · doi:10.12703/p5-34 · Cited by 12

Advanced Whole-Genome Sequencing and Analysis of Fetal Genomes from Amniotic Fluid

Mao, Q., Chin, R. G., Xie, W., Deng, Y., Zhang, W., Xu, H., Zhang, R. Y. U., Shi, Q., Peters, E. E., Gulbahce, N., et al. (2018) · Clinical Chemistry · doi:10.1373/clinchem.2017.281220 · Cited by 12

A direct multi-generational estimate of the human mutation rate from autozygous segments seen in thousands of parentally related individualsPreprint

Narasimhan, V. M., Rahbari, R., Scally, A., Wüster, A., Mason, D., Xue, Y., Wright, J., Trembath, R. C., Maher, E. R., van Heel, D. A., et al. (2016) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/059436 · Cited by 11

Erratum to: A reference human genome dataset of the BGISEQ-500 sequencer

Huang, J., Liang, X., Xuan, Y., Geng, C., Li, Y., Lu, H., Qu, S., Mei, X., Chen, H., Yu, T., et al. (2018) · GigaScience · doi:10.1093/gigascience/giy144 · Cited by 11

Comparative performance of the BGI and Illumina sequencing technology for single-cell RNA-sequencingPreprint

Senabouth, A., Andersen, S. B., Shi, Q., Shi, L., Liu, P., Jiang, F., Zhang, W., Wing, K., Daniszewski, M., Lukowski, S. W., et al. (2019) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/552588 · Cited by 11

Poaceae Chloroplast Genome Sequencing: Great Leap Forward in Recent Ten Years

Hu, Y.-Y., Sun, Y.-Q., Zhu, Q.-H., Fan, L.-J., & Li, J.-H. (2022) · Current Genomics · doi:10.2174/1389202924666221201140603 · Cited by 14

Beyond the base pairs: comparative genome-wide DNA methylation profiling across sequencing technologies

Liu, X., Pang, Y., Shan, J., Wang, Y., Zheng, Y., Xue, Y., Zhou, X., Wang, W., Sun, Y., Yan, X., et al. (2024) · Briefings in Bioinformatics · doi:10.1093/bib/bbae440 · Cited by 12

Neuronal somatic mutations are increased in multiple sclerosis lesions

Motyer, A., Jackson, S., Yang, B., Harliwong, I., Tian, W., Shiu, W., Shao, Y., Wang, B., McLean, C., Barnett, M. H., et al. (2025) · Nature Neuroscience · doi:10.1038/s41593-025-01895-5 · Cited by 11

Whole genome sequencing of matched tumor, adjacent non-tumor tissues and corresponding normal blood samples of hepatocellular carcinoma patients revealed dynamic changes of the mutations profiles during hepatocarcinogenesis

Mao, R., Liu, J., Liu, G., Jin, S., Xue, Q., Ma, L., Fu, Y., Zhao, N., Xing, J., Li, L., et al. (2017) · Oncotarget · doi:10.18632/oncotarget.15428 · Cited by 10

Proteomics and Transcriptomics Uncover Key Processes for Elasnin Tolerance in Methicillin-Resistant Staphylococcus aureus

Sulaiman, J. E., Long, L., Qian, P., & Lam, H. (2022) · mSystems · doi:10.1128/msystems.01393-21 · Cited by 12

Trypanosoma cruzi dysregulates expression profile of piRNAs in primary human cardiac fibroblasts during early infection phase

Rayford, K. J., Cooley, A., Strode, A. W., Osi, I., Arun, A., Lima, M. F., Misra, S., Pratap, S., & Nde, P. N. (2023) · Frontiers in Cellular and Infection Microbiology · doi:10.3389/fcimb.2023.1083379 · Cited by 10

Comparison of capture-based mtDNA sequencing performance between MGI and illumina sequencing platforms in various sample types

Feng, Z., Peng, F., Xie, F., Liu, Y., Zhang, H., Ma, J., Xing, J., & Guo, X. (2024) · BMC Genomics · doi:10.1186/s12864-023-09938-6 · Cited by 10

Quality control metrics improve repeatability and reproducibility of single-nucleotide variants derived from whole-genome sequencing

Zhang, W., Soika, V., Meehan, J., Su, Z., Ge, W., Ng, H. W., Perkins, R., Simonyan, V. V., Tong, W., & Hong, H. (2014) · The Pharmacogenomics Journal · doi:10.1038/tpj.2014.70 · Cited by 10

Novel genetic risk variants for pediatric celiac disease

Balasopoulou, A., Stanković, B., Panagiotara, A., Nikčević, G., Peters, B. A., John, A., Mendrinou, E., Στρατόπουλος, Α., Legaki, A., Stathakopoulou, V., et al. (2016) · Human Genomics · doi:10.1186/s40246-016-0091-1 · Cited by 10

Next-generation sequencing for endocrine cancers: Recent advances and challenges

Suresh, P. S., Venkatesh, T., Tsutsumi, R., & Shetty, A. (2017) · Tumor Biology · doi:10.1177/1010428317698376 · Cited by 10

Contribution of homozygous and compound heterozygous missense mutations in VWA2 to Alzheimer’s disease

Hoogmartens, J., Hens, E., Engelborghs, S., Vandenberghe, R. R., Deyn, P. P. D., Cacace, R., Broeckhoven, C. V., Cras, P. P., Goeman, J., Crols, R., et al. (2020) · Neurobiology of Aging · doi:10.1016/j.neurobiolaging.2020.09.009 · Cited by 10

Identification of thalassemia gene cluster deletion by long‐read whole‐genome sequencing (LR‐WGS)

Jiang, F., Lyu, G., Zhang, V. W., & Li, D. (2021) · International Journal of Laboratory Hematology · doi:10.1111/ijlh.13452 · Cited by 10

Spatially Resolved Transcriptomics: Revealing Tumor Microenvironment Heterogeneity to Advance Cancer Immunotherapy

Liu, D., Xiao, L. X., Wu, Y., Yue, C., Li, M., Sun, Y., & Yang, C. J. (2025) · Small Methods · doi:10.1002/smtd.202500770 · Cited by 9

Suppression of cancer‐initiating cells and selection of adipose‐derived stem cells cultured on biomaterials having specific nanosegments

Kao, T., Lee, H. H., Higuchi, A., Ling, Q., Yu, W., Chou, Y., Wang, P., Kumar, S. S., Chang, Y., Chen, Y. H., et al. (2013) · Journal of Biomedical Materials Research Part B Applied Biomaterials · doi:10.1002/jbm.b.33024 · Cited by 9

Draft Genome Assembly for the Tibetan Black Bear (Ursus thibetanus thibetanus)

Zhu, C., Xu, W., Li, J., Liu, C., Hu, M., Yuan, Y., Yuan, K., Zhang, Y., Song, X., Han, J., et al. (2020) · Frontiers in Genetics · doi:10.3389/fgene.2020.00231 · Cited by 10

Microarrays towards nanoarrays and the future Next Generation of Sequencing methodologies (NGS)

Bracamonte, A. G. (2022) · Sensing and Bio-Sensing Research · doi:10.1016/j.sbsr.2022.100503 · Cited by 10

Next-Generation Sequencing Technologies: Approaches and Applications for Crop Improvement

Singh, A., Ramakrishna, G., Kaila, T., Saxena, S., Sharma, S. B., Gaikwad, A. B., Abdin, M. Z., & Gaikwad, K. (2022) · Springer protocols handbooks/Springer protocols · doi:10.1007/978-1-0716-2533-0_3 · Cited by 9

Case reports of two siblings with autism spectrum disorder and 15q13.3 deletions

Furukawa, S., Kushima, I., Aleksić, B., & Ozaki, N. (2023) · Neuropsychopharmacology Reports · doi:10.1002/npr2.12340 · Cited by 9

Human Genomics in Cardiovascular Medicine

Morita, H. (2013) · Circulation Journal · doi:10.1253/circj.cj-13-0126 · Cited by 9

Paired-End Sequencing of Long-Range DNA Fragments for De Novo Assembly of Large, Complex Mammalian Genomes by Direct Intra-Molecule Ligation

Asan, Geng, C., Chen, Y., Wu, K., Cai, Q., Wang, Y., Lang, Y., Cao, H., Yang, H., Wang, J. Z., et al. (2012) · PLoS ONE · doi:10.1371/journal.pone.0046211 · Cited by 9

Characterization of a schizophrenia patient with a rare RELN deletion by combining genomic and patient-derived cell analyses

Arioka, Y., Hirata, A., Kushima, I., Aleksić, B., Mori, D., & Ozaki, N. (2019) · Schizophrenia Research · doi:10.1016/j.schres.2019.10.038 · Cited by 9

Human Body Performance with COVID-19 Affectation According to Virus Specification Based on Biosensor Techniques

Alathari, M. J. A., Mashhadany, Y. I. M. A., Mokhtar, M. H. H., Burham, N. B., Zan, M. S. D., Bakar, A. A. A., & Arsad, N. (2021) · Sensors · doi:10.3390/s21248362 · Cited by 9

Non-Invasive Prenatal Diagnosis of Monogenic Disorders Through Bayesian- and Haplotype-Based Prediction of Fetal Genotype

Li, J., Lu, J., Su, F., Yang, J., Ju, J., Lin, Y., Xu, J., Qi, Y., Hou, Y., Wu, J. T., et al. (2022) · Frontiers in Genetics · doi:10.3389/fgene.2022.911369 · Cited by 9

Improving sequence-based genotype calls with linkage disequilibrium and pedigree information

Zhou, B., & Whittemore, A. S. (2012) · The Annals of Applied Statistics · doi:10.1214/11-aoas527 · Cited by 9

In Brief

(2009) · Nature Reviews Genetics · doi:10.1038/nrg2713

Complete Human Genome Sequencing for Large-Scale Human Disease Studies

Drmanac, R. (2010) · PubMed Central

Accurate Whole Genome Sequencing as the Ultimate Genetic Test

Drmanac, R., Peters, B. A., Church, G. M., Reid, C. A., & Xu, X. (2014) · Clinical Chemistry · doi:10.1373/clinchem.2014.224907 · Cited by 6

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

Drmanac, R., Sparks, A. B., Callow, M. J., Halpern, A. L., Burns, N. L., Kermani, B. G., Carnevali, P., Nazarenko, I., Nilsen, G. B., Yeung, G., et al. (2010)

Genome sequencing on nanoballs

Porreca, G. J. (2010) · Nature Biotechnology · doi:10.1038/nbt0110-43 · Cited by 49