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

Sry, more than testis determination?

Turner, M. E., Ely, D., Prokop, J. W., & Milsted, A. (2011) · American Journal of Physiology-Regulatory, Integrative and Comparative Physiology · doi:10.1152/ajpregu.00645.2010 · Cited by 56

Genome sequencing uncovers phenocopies in primary progressive multiple sclerosis

Jia, X., Madireddy, L., Caillier, S. J., Santaniello, A., Esposito, F., Comı, G., Stüve, O., Zhou, Y., Taylor, B. V., Kilpatrick, T. J., et al. (2018) · Annals of Neurology · doi:10.1002/ana.25263 · Cited by 56

Approximation to the Distribution of Fitness Effects across Functional Categories in Human Segregating Polymorphisms

Racimo, F., & Schraiber, J. G. (2014) · PLoS Genetics · doi:10.1371/journal.pgen.1004697 · Cited by 55

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

Senabouth, A., Andersen, S. B., Shi, Q., Shi, L., Jiang, F., Zhang, W., Wing, K., Daniszewski, M., Lukowski, S. W., Hung, S. S. C., et al. (2020) · NAR Genomics and Bioinformatics · doi:10.1093/nargab/lqaa034 · Cited by 54

Genome Sequencing

Verma, M., Kulshrestha, S., & Puri, A. (2016) · Methods in molecular biology · doi:10.1007/978-1-4939-6622-6_1 · Cited by 55

Developmental timing of mutations revealed by whole-genome sequencing of twins with acute lymphoblastic leukemia

Ma, Y. P., Dobbins, S. E., Sherborne, A. L., Chubb, D., Galbiati, M., Cazzaniga, G., Micalizzi, C., Tearle, R. G., Lloyd, A. L., Hain, R. D., et al. (2013) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.1221099110 · Cited by 54

Microfluidic magnetic fluidized bed for DNA analysis in continuous flow mode

Hernández-Neuta, I., Pereiro, I., Ahlford, A., Ferraro, D., Zhang, Q., Viovy, J., Descroix, S., & Nilsson, M. (2017) · Biosensors and Bioelectronics · doi:10.1016/j.bios.2017.11.064 · Cited by 54

Molecular heterogeneity and early metastatic clone selection in testicular germ cell cancer development

Dorssers, L. C. J., Gillis, A., Stoop, H., van Marion, R., Nieboer, M. M., van Riet, J., van de Werken, H. J. G., Oosterhuis, J. W., de Ridder, J., & Looijenga, L. H. J. (2019) · British Journal of Cancer · doi:10.1038/s41416-019-0381-1 · Cited by 52

Design of targeted, capture-based, next generation sequencing tests for precision cancer therapy

Hagemann, I. S., Cottrell, C. E., & Lockwood, C. M. (2013) · Cancer Genetics · doi:10.1016/j.cancergen.2013.11.003 · Cited by 53

Rapid re-identification of human samples using portable DNA sequencing

Zaaijer, S., Gordon, A., Speyer, D., Piccone, R., Groen, S. C., & Erlich, Y. (2017) · eLife · doi:10.7554/elife.27798 · Cited by 51

Quantitative trait locus analysis for next-generation sequencing with the functional linear models

Luo, L., Zhu, Y., & Xiong, M. (2012) · Journal of Medical Genetics · doi:10.1136/jmedgenet-2012-100798 · Cited by 50

Use of Whole Genome Sequencing for Diagnosis and Discovery in the Cancer Genetics Clinic

Foley, S. B., Rios, J. J., Mgbemena, V. E., Robinson, L. S., Hampel, H. L., Toland, A. E., Durham, L. K., & Ross, T. S. (2014) · EBioMedicine · doi:10.1016/j.ebiom.2014.12.003 · Cited by 52

Deciphering the 8q24.21 association for glioma

Enciso-Mora, V., Hosking, F. J., Kinnersley, B., Wang, Y., Shete, S. S., Zélénika, D., Broderick, P., Idbaïh, A., Delattre, J., Hoang‐Xuan, K., et al. (2013) · Human Molecular Genetics · doi:10.1093/hmg/ddt063 · Cited by 53

Personal Genome Sequencing in Ostensibly Healthy Individuals and the PeopleSeq Consortium

Linderman, M. D., Nielsen, D. E., & Green, R. C. (2016) · Journal of Personalized Medicine · doi:10.3390/jpm6020014 · Cited by 53

Family-based exome-sequencing approach identifies rare susceptibility variants for lithium-responsive bipolar disorder

Cruceanu, C., Ambalavanan, A., Spiegelman, D., Gauthier, J., Lafrenière, R. G., Dion, P. A., Alda, M., Turecki, G., & Rouleau, G. A. (2013) · Genome · doi:10.1139/gen-2013-0081 · Cited by 54

Genome sequencing as a platform for pharmacogenetic genotyping: a pediatric cohort study

Cohn, I., Paton, T., Marshall, C. R., Basran, R. K., Stavropoulos, D. J., Ray, P. N., Monfared, N., Hayeems, R. Z., Meyn, M. S., Bowdin, S. C., et al. (2017) · npj Genomic Medicine · doi:10.1038/s41525-017-0021-8 · Cited by 53

Quantitative Whole Genome Sequencing of Circulating Tumor Cells Enables Personalized Combination Therapy of Metastatic Cancer

Gulbahce, N., Magbanua, M. J. M., Chin, R. G., Agarwal, M. R., Luo, X., Liu, J., Hayden, D. M., Mao, Q., Ciotlos, S., Li, Z., et al. (2017) · Cancer Research · doi:10.1158/0008-5472.can-17-0688 · Cited by 55

Response to Immune Checkpoint Inhibition in Two Patients with Alveolar Soft-Part Sarcoma

Lewin, J. H., Davidson, S., Anderson, N. D., Lau, B. Y., Kelly, J., Tabori, U. Y., Salah, S. H., Butler, M. O., Aung, K. L., Shlien, A., et al. (2018) · Cancer Immunology Research · doi:10.1158/2326-6066.cir-18-0037 · Cited by 53

Embryonic liver developmental trajectory revealed by single-cell RNA sequencing in the Foxa2eGFP mouse

Mu, T., Xu, L., Zhong, Y., Liu, X., Zhao, Z., Huang, C., Lan, X., Lufei, C., Zhou, Y., Su, Y., et al. (2020) · Communications Biology · doi:10.1038/s42003-020-01364-8 · Cited by 54

ClinVar and HGMD genomic variant classification accuracy has improved over time, as measured by implied disease burden

Sharo, A. G., Zou, Y., Adhikari, A. N., & Brenner, S. E. (2023) · Genome Medicine · doi:10.1186/s13073-023-01199-y · Cited by 51

Single-molecule mechanical identification and sequencing

Ding, F., Mañosas, M., Spiering, M. M., Benkovic, S. J., Bensimon, D., Allemand, J., & Croquette, V. (2012) · Nature Methods · doi:10.1038/nmeth.1925 · Cited by 52

TCF21 hypermethylation in genetically quiescent clear cell sarcoma of the kidney

Gooskens, S. L. M., Gadd, S., Auvil, J. M. G., Gerhard, D. S., Khan, J. I., Patidar, R., Meerzaman, D. M., Chen, Q.-R., Hsu, C. H., Yan, C., et al. (2015) · Oncotarget · doi:10.18632/oncotarget.4682 · Cited by 51

Sequencing and analysis of an Irish human genome

Tong, P., Prendergast, J. G. D., Lohan, A. J., Farrington, S. M., Cronin, S., Friel, N., Bradley, D. G., Hardiman, O. M., Evans, A. C. O., Wilson, J. F., et al. (2010) · Genome biology · doi:10.1186/gb-2010-11-9-r91 · Cited by 50

Massively Parallel Sequencing Approaches for Characterization of Structural Variation

Koboldt, D. C., Larson, D. E., Chen, K., Ding, L., & Wilson, R. K. (2011) · Methods in molecular biology · doi:10.1007/978-1-61779-507-7_18 · Cited by 52

Novel multi-nucleotide polymorphisms in the human genome characterized by whole genome and exome sequencing

Rosenfeld, J., Malhotra, A. K., & Lencz, T. (2010) · Nucleic Acids Research · doi:10.1093/nar/gkq408 · Cited by 51

Genomic landscapes of Chinese sporadic autism spectrum disorders revealed by whole-genome sequencing

Wu, J., Yu, P., Jin, X., Xu, X., Li, J., Li, Z., Wang, M., Wang, T., Wu, X., Jiang, Y. W., et al. (2018) · Journal of genetics and genomics/Journal of Genetics and Genomics · doi:10.1016/j.jgg.2018.09.002 · Cited by 47

Big Data and Predictive Analytics

Suresh, S. (2016) · Pediatric Clinics of North America · doi:10.1016/j.pcl.2015.12.007 · Cited by 51

Protein instability associated with AARS1 and MARS1 mutations causes trichothiodystrophy

Botta, E., Theil, A. F., Raams, A., Caligiuri, G., Giachetti, S., Bione, S., Accadia, M., Lombardi, A., Smith, D. E. C., Mendes, M. I. S., et al. (2021) · Human Molecular Genetics · doi:10.1093/hmg/ddab123 · Cited by 48

Whole-Genome Sequencing Suggests Schizophrenia Risk Mechanisms in Humans with 22q11.2 Deletion Syndrome

Merico, D., Zarrei, M., Costain, G., Ogura, L., Alipanahi, B., Gazzellone, M. J., Butcher, N. J., Thiruvahindrapuram, B., Nalpathamkalam, T., Chow, E. W. C., et al. (2015) · G3 Genes Genomes Genetics · doi:10.1534/g3.115.021345 · Cited by 52

All Your Base: a fast and accurate probabilistic approach to base calling

Massingham, T., & Goldman, N. (2012) · Genome biology · doi:10.1186/gb-2012-13-2-r13 · Cited by 49

The Road from Next-Generation Sequencing to Personalized Medicine

Gonzalez‐Garay, M. L. (2014) · Personalized Medicine · doi:10.2217/pme.14.34 · Cited by 49

Next Generation Sequence Analysis and Computational Genomics Using Graphical Pipeline Workflows

Torri, F., Dinov, I. D., Zamanyan, A., Hobel, S., Genco, A., Petrosyan, P., Clark, A. P., Liu, Z., Eggert, P., Pierce, J., et al. (2012) · Genes · doi:10.3390/genes3030545 · Cited by 51

Major changes of cell function and toxicant sensitivity in cultured cells undergoing mild, quasi-natural genetic drift

Gutbier, S., May, P., Berthelot, S., Krishna, A., Trefzer, T., Behbehani, M., Efremova, L., Delp, J., Gstraunthaler, G., Waldmann, T., et al. (2018) · Archives of Toxicology · doi:10.1007/s00204-018-2326-5 · Cited by 49

Next generation plant biostimulants & genome sequencing strategies for sustainable agriculture development

Garg, S., Nain, P., Kumar, A., Joshi, S., Punetha, H., Sharma, P. K., Siddiqui, S., Alshaharni, M. O., Algopishi, U. B., & Mittal, A. (2024) · Frontiers in Microbiology · doi:10.3389/fmicb.2024.1439561 · Cited by 48

Rolling circle replication requires single-stranded DNA binding protein to avoid termination and production of double-stranded DNA

Ducani, C., Bernardinelli, G., & Högberg, B. (2014) · Nucleic Acids Research · doi:10.1093/nar/gku737 · Cited by 48

Application of second-generation sequencing to cancer genomics

Robison, K. E. (2010) · Briefings in Bioinformatics · doi:10.1093/bib/bbq013 · Cited by 48

Progress in Neoantigen Targeted Cancer Immunotherapies

Han, X., Ma, X., Li, Y., Wei, Y.-Q., Peng, Y., & Wei, X. (2020) · Frontiers in Cell and Developmental Biology · doi:10.3389/fcell.2020.00728 · Cited by 49

Individual Genomes on the Horizon

Lifton, R. P. (2010) · New England Journal of Medicine · doi:10.1056/nejme1001090 · Cited by 46

Insights into the Genetic Structure and Diversity of 38 South Asian Indians from Deep Whole-Genome Sequencing

Wong, L.-P., Lai, J. K. H., Saw, W., Ong, R. T., Cheng, A. Y., Pillai, N. E., Liu, X., Xu, W., Chen, P., Foo, J. N., et al. (2014) · PLoS Genetics · doi:10.1371/journal.pgen.1004377 · Cited by 49

Cracking the Code of Human Diseases Using Next-Generation Sequencing: Applications, Challenges, and Perspectives

Precone, V., Monaco, V. D., Esposito, M. V., Palma, F. D. E. D., Ruocco, A., Salvatore, F., & D’Argenio, V. (2015) · BioMed Research International · doi:10.1155/2015/161648 · Cited by 51

Gene and Variant Annotation for Mendelian Disorders in the Era of Advanced Sequencing Technologies

Chakravorty, S., & Hegde, M. (2017) · Annual Review of Genomics and Human Genetics · doi:10.1146/annurev-genom-083115-022545 · Cited by 47

Common Oncogene Mutations and Novel SND1-BRAF Transcript Fusion in Lung Adenocarcinoma from Never Smokers

Jang, J. S., Lee, A. M., Li, J., Liyanage, H., Yang, Y., Guo, L., Asmann, Y. W., Li, P. W., Erickson‐Johnson, M. R., Sakai, Y., et al. (2015) · Scientific Reports · doi:10.1038/srep09755 · Cited by 48

Dean Flow Assisted Single Cell and Bead Encapsulation for High Performance Single Cell Expression Profiling

Li, L., Wu, P., Luo, Z., Wang, L., Ding, W., Wu, T., Chen, J., He, J., He, Y., Wang, H., et al. (2019) · ACS Sensors · doi:10.1021/acssensors.9b00171 · Cited by 47

Patient-specific genomics and cross-species functional analysis implicate LRP2 in hypoplastic left heart syndrome

Theis, J. L., Vogler, G., Missinato, M. A., Li, X., Martinez‐Fernandez, A., Nielsen, T., Walls, S. M., Kervadec, A., Zeng, X.-X. I., Kezos, J. N., et al. (2020) · eLife · doi:10.7554/elife.59554 · Cited by 47

Integrating the multiple dimensions of genomic and epigenomic landscapes of cancer

Chari, R., Thu, K. L., Wilson, I. M., Lockwood, W. W., Lonergan, K. M., Coe, B. P., Malloff, C. A., Gazdar, A. F., Lam, S. C., Garnis, C., et al. (2010) · Cancer and Metastasis Reviews · doi:10.1007/s10555-010-9199-2 · Cited by 47

Genome at Juncture of Early Human Migration: A Systematic Analysis of Two Whole Genomes and Thirteen Exomes from Kuwaiti Population Subgroup of Inferred Saudi Arabian Tribe Ancestry

Alsmadi, O. A., John, S. E., Thareja, G., Hebbar, P., Antony, D., Behbehani, K., & Thanaraj, T. A. (2014) · PLoS ONE · doi:10.1371/journal.pone.0099069 · Cited by 48

Evaluating the Evidence for Transmission Distortion in Human Pedigrees

Meyer, W. K., Arbeithuber, B., Ober, C., Ebner, T., Tiemann‐Boege, I., Hudson, R. R., & Przeworski, M. (2012) · Genetics · doi:10.1534/genetics.112.139576 · Cited by 47

Genetic data: The new challenge of personalized medicine, insights for rheumatoid arthritis patients

Goulielmos, G. N., Zervou, M. I., Myrthianou, E., Burska, A. N., Niewold, T. B., & Ponchel, F. (2016) · Gene · doi:10.1016/j.gene.2016.02.004 · Cited by 47

Management of Incidental Findings in the Era of Next-generation Sequencing

Blackburn, H. L., Schroeder, B., Turner, C., Shriver, C. D., Ellsworth, D. L., & Ellsworth, R. E. (2015) · Current Genomics · doi:10.2174/1389202916666150317232930 · Cited by 46

Integrated genome and transcriptome sequencing identifies a noncoding mutation in the genome replication factor DONSON as the cause of microcephaly-micromelia syndromePreprint

Evrony, G. D., Cordero, D. R., Shen, J., Partlow, J. N., Yu, T. W., Rodin, R. E., Hill, R. S., Coulter, M. E., Lam, A.-T. N., Jayaraman, D., et al. (2017) · Genome Research · doi:10.1101/gr.219899.116 · Cited by 46

Impacts of massively parallel sequencing for genetic diagnosis of neuromuscular disorders

Vasli, N., & Laporte, J. (2012) · Acta Neuropathologica · doi:10.1007/s00401-012-1072-7 · Cited by 46

Gene-based single nucleotide polymorphism discovery in bovine muscle using next-generation transcriptomic sequencing

Djari, A., Esquerré, D., Weiss, B., Martins, F., Meersseman, C., Boussaha, M., Klopp, C., & Rocha, D. (2013) · BMC Genomics · doi:10.1186/1471-2164-14-307 · Cited by 44

Next-generation carrier screening

Umbarger, M. A., Kennedy, C. J., Saunders, P., Breton, B., Chennagiri, N., Emhoff, J., Greger, V., Hallam, S., Maganzini, D., Perreault-Micale, C. L., et al. (2013) · Genetics in Medicine · doi:10.1038/gim.2013.83 · Cited by 45

The Impact of Omic Technologies on the Study of Food Microbes

O’Flaherty, S., & Klaenhammer, T. R. (2011) · Annual Review of Food Science and Technology · doi:10.1146/annurev-food-030810-110338 · Cited by 48

Application of Genomic Technologies to the Breeding of Trees

Badenes, M. L., Martí, A. V. F. I., Ríos, G., & Cabetas, M. J. R. (2016) · Frontiers in Genetics · doi:10.3389/fgene.2016.00198 · Cited by 45

Genetic variants at the EGLN1 locus associated with high‐altitude adaptation in Tibetans are absent or found at low frequency in highland Andeans

Heinrich, E. C., Wu, L., Lawrence, E. S., Cole, A. M., Anza‐Ramirez, C., Villafuerte, F. C., & Simonson, T. S. (2019) · Annals of Human Genetics · doi:10.1111/ahg.12299 · Cited by 46

Whole-Genome Sequencing of Asian Lung Cancers: Second-Hand Smoke Unlikely to Be Responsible for Higher Incidence of Lung Cancer among Asian Never-Smokers

Krishnan, V. G., Ebert, P. J., Ting, J. C., Lim, E. H., Wong, S. S., Teo, A. S. M., Yue, Y. G., Chua, H.-H., Ma, X., Loh, G. S. L., et al. (2014) · Cancer Research · doi:10.1158/0008-5472.can-13-3195 · Cited by 45

Identification of Variants in Genes Associated with Single-gene Inflammatory Bowel Disease by Whole-exome Sequencing

Ashton, J. J., Andreoletti, G., Coelho, T. A. F., Haggarty, R., Batra, A., Afzal, N. A., Beattie, R. M., & Ennis, S. (2016) · Inflammatory Bowel Diseases · doi:10.1097/mib.0000000000000890 · Cited by 44

Demographic history and biologically relevant genetic variation of Native Mexicans inferred from whole-genome sequencing

Romero‐Hidalgo, S., Ochoa‐Leyva, A., Garcíarrubio, A., Acuña-Alonzo, V., Antúnez-Argüelles, E., Balcazar-Quintero, M., Barquera, R., Carnevale, A., Cornejo‐Granados, F., Fernández-López, J. C., et al. (2017) · Nature Communications · doi:10.1038/s41467-017-01194-z · Cited by 46

Methods and novel technology for microRNA quantification in colorectal cancer screening

Moody, L., He, H., Pan, Y.-X., & Chen, H. (2017) · Clinical Epigenetics · doi:10.1186/s13148-017-0420-9 · Cited by 42

Genome-wide mutational signatures revealed distinct developmental paths for human B cell lymphomas

Ye, X., Ren, W., Liu, D., Li, X., Li, W., Wang, X., Meng, F., Yeap, L.-S., Hou, Y., Zhu, S., et al. (2020) · The Journal of Experimental Medicine · doi:10.1084/jem.20200573 · Cited by 46

Analysis of Induced Pluripotent Stem Cells from a BRCA1 Mutant Family

Soyombo, A. A., Wu, Y., Kolski, L., Rios, J. J., Rakheja, D., Chen, A. P., Kehler, J., Hampel, H., Coughran, A. J., & Ross, T. S. (2013) · Stem Cell Reports · doi:10.1016/j.stemcr.2013.08.004 · Cited by 49

The History of DNA Sequencing / ISTORIJAT SEKVENCIRANJA DNK

Gužvić, M. (2013) · Journal of Medical Biochemistry · doi:10.2478/jomb-2014-0004 · Cited by 46

Mutations of conserved non-coding elements of PITX2 in patients with ocular dysgenesis and developmental glaucoma

Protas, M. E., Weh, E., Footz, T. K., Kasberger, J., Baraban, S. C., Levin, A. V., Katz, L. J., Ritch, R. H., Walter, M. A., Semina, E. V., et al. (2017) · Human Molecular Genetics · doi:10.1093/hmg/ddx251 · Cited by 43

Contribution of rare homozygous and compound heterozygous VPS13C missense mutations to dementia with Lewy bodies and Parkinson’s disease

Smolders, S., Philtjens, S., Crosiers, D., Sieben, A., Hens, E., Heeman, B., Mossevelde, S. V., Pals, P., Asselbergh, B., Dias, R. A., et al. (2021) · Acta Neuropathologica Communications · doi:10.1186/s40478-021-01121-w · Cited by 45

Whole genome sequencing for quantifying germline mutation frequency in humans and model species: Cautious optimism

Beal, M. A., Glenn, T. C., & Somers, C. M. (2011) · Mutation Research/Reviews in Mutation Research · doi:10.1016/j.mrrev.2011.11.002 · Cited by 41

Whole-Genome Sequencing in Personalized Therapeutics

Cordero, P., & Ashley, E. A. (2012) · Clinical Pharmacology & Therapeutics · doi:10.1038/clpt.2012.51 · Cited by 45

Mutations in the polyglutamylase geneTTLL5, expressed in photoreceptor cells and spermatozoa, are associated with cone-rod degeneration and reduced male fertility

Bedoni, N., Haer‐Wigman, L., Vaclavik, V., Tran, H. V., Farinelli, P., Balzano, S., Royer‐Bertrand, B., El‐Asrag, M. E., Bonny, O., Ikonomidis, C., et al. (2016) · Human Molecular Genetics · doi:10.1093/hmg/ddw282 · Cited by 46

Trichothiodystrophy causative TFIIEβ mutation affects transcription in highly differentiated tissue

Theil, A. F., Mandemaker, I. K., van den Akker, E., Swagemakers, S. M. A., Raams, A., Wüst, T., Marteijn, J. A. F., Giltay, J. C., Rm, C., Moog, U., et al. (2017) · Human Molecular Genetics · doi:10.1093/hmg/ddx351 · Cited by 42

The peopling of the last Green Sahara revealed by high-coverage resequencing of trans-Saharan patrilineages

D’Atanasio, E., Trombetta, B., Bonito, M., Finocchio, A., Vito, G. D., Seghizzi, M., Romano, R., Russo, G., Paganotti, G. M., Watson, E., et al. (2018) · Genome biology · doi:10.1186/s13059-018-1393-5 · Cited by 43

Selective Biomolecular Nanoarrays for Parallel Single-Molecule Investigations

Palma, M., Abramson, J. J., Gorodetsky, A. A., Penzo, E., Gonzalez, R. L., Sheetz, M. P., Nuckolls, C. P., Hone, J., & Wind, S. J. (2011) · Journal of the American Chemical Society · doi:10.1021/ja201031g · Cited by 41

Aging as Accelerated Accumulation of Somatic Variants: Whole-Genome Sequencing of Centenarian and Middle-Aged Monozygotic Twin Pairs

Ye, K., Beekman, M., Lameijer, E.-W., Zhang, Y., Moed, M. H., van den Akker, E. B., Deelen, J., Houwing‐Duistermaat, J. J., Kremer, D., Anvar, S. Y., et al. (2013) · Twin Research and Human Genetics · doi:10.1017/thg.2013.73 · Cited by 41

Whole-Genome Sequencing in Healthy People

Lindor, N. M., Thibodeau, S. N., & Burke, W. (2017) · Mayo Clinic Proceedings · doi:10.1016/j.mayocp.2016.10.019 · Cited by 41

A frequent variant in the Japanese population determines quasi-Mendelian inheritance of rare retinal ciliopathy

Nikopoulos, K., Cisarova, K. V., Quinodoz, M., Koskiniemi-Kuendig, H., Miyake, N., Farinelli, P., Rehman, A. U., Khan, M. I., Prunotto, A., Akiyama, M., et al. (2019) · Nature Communications · doi:10.1038/s41467-019-10746-4 · Cited by 40

Differential privacy under dependent tuples—the case of genomic privacy

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Sensitive spatial genome wide expression profiling at cellular resolutionPreprint

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