Genome-wide in situ exon capture for selective resequencing

High-Resolution Profiling of Histone Methylations in the Human Genome

Barski, A., Cuddapah, S., Cui, K., Roh, T.-Y., Schones, D. E., Wang, Z., Wei, G., Chepelev, I., & Zhao, K. (2007) · Cell · doi:10.1016/j.cell.2007.05.009 · Cited by 6,845

Genome-wide profiles of STAT1 DNA association using chromatin immunoprecipitation and massively parallel sequencing

Robertson, G., Hirst, M., Bainbridge, M., Bilenky, M., Zhao, Y., Zeng, T., Euskirchen, G., Bernier, B., Varhol, R., Delaney, A., et al. (2007) · Nature Methods · doi:10.1038/nmeth1068 · Cited by 1,454

Sequencing technologies – the next generation

Metzker, M. L. (2010) · Nature Reviews Genetics · doi:10.1038/nrg2626 · Cited by 7,066

Coming of age: ten years of next-generation sequencing technologies

Goodwin, S., McPherson, J. D., & McCombie, W. R. (2016) · Nature Reviews Genetics · doi:10.1038/nrg.2016.49 · Cited by 4,352

Next-generation DNA sequencing

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

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

Towards next-generation biodiversity assessment using DNA metabarcoding

TABERLET, P., COISSAC, E., POMPANON, F., BROCHMANN, C., & WILLERSLEV, E. (2012) · Molecular Ecology · doi:10.1111/j.1365-294x.2012.05470.x · Cited by 1,907

Targeted capture and massively parallel sequencing of 12 human exomes

Ng, S. B., Turner, E. H., Robertson, P. D., Flygare, S. D., Bigham, A. W., Lee, C., Shaffer, T., Wong, M., Bhattacharjee, A., Eichler, E. E., et al. (2009) · Nature · doi:10.1038/nature08250 · Cited by 2,030

Exome sequencing identifies the cause of a mendelian disorder

Ng, S. B., Buckingham, K. J., Lee, C., Bigham, A. W., Tabor, H. K., Dent, K. M., Huff, C. D., Shannon, P. T., Jabs, E. W., Nickerson, D. A., et al. (2010) · Nature Genetics · doi:10.1038/ng.499 · Cited by 1,957

Solution hybrid selection with ultra-long oligonucleotides for massively parallel targeted sequencing

Gnirke, A., Melnikov, A., Maguire, J., Rogov, P., LeProust, E. M., Brockman, W., Fennell, T., Giannoukos, G., Fisher, S., Russ, C., et al. (2009) · Nature Biotechnology · doi:10.1038/nbt.1523 · Cited by 1,433

A Groupwise Association Test for Rare Mutations Using a Weighted Sum Statistic

Madsen, B. E., & Browning, S. R. (2009) · PLoS Genetics · doi:10.1371/journal.pgen.1000384 · Cited by 1,113

SNP detection for massively parallel whole-genome resequencing

Li, R., Li, Y., Fang, X., Yang, H., Wang, J., Kristiansen, K., & Wang, J. (2009) · Genome Research · doi:10.1101/gr.088013.108 · Cited by 944

TP53 Variations in Human Cancers: New Lessons from the IARC TP53 Database and Genomics Data: Human Mutation

Bouaoun, L., Sonkin, D., Ardin, M., Hollstein, M., Byrnes, G., Zavadil, J., & Olivier, M. (2016) · Human Mutation · doi:10.1002/humu.23035 · Cited by 730

Evaluation of next generation sequencing platforms for population targeted sequencing studies

Harismendy, O., Ng, P. C., Strausberg, R. L., Wang, X., Stockwell, T. B., Beeson, K. Y., Schork, N. J., Murray, S. S., Topol, E. J., Levy, S., et al. (2009) · Genome Biology · doi:10.1186/gb-2009-10-3-r32 · Cited by 614

DNA analysis of an early modern human from Tianyuan Cave, China

Fu, Q., Meyer, M., Gao, X., Stenzel, U., Burbano, H. A., Kelso, J., & Pääbo, S. (2013) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.1221359110 · Cited by 608

Partial uracil–DNA–glycosylase treatment for screening of ancient DNA

Rohland, N., Harney, E., Mallick, S., Nordenfelt, S., & Reich, D. (2015) · Philosophical Transactions of the Royal Society B: Biological Sciences · doi:10.1098/rstb.2013.0624 · Cited by 572

Single-cell analysis tools for drug discovery and development

Heath, J. R., Ribas, A., & Mischel, P. S. (2016) · Nature Reviews Drug Discovery · doi:10.1038/nrd.2015.16 · Cited by 473

Microdroplet-based PCR enrichment for large-scale targeted sequencing

Tewhey, R., Warner, J. B., Nakano, M., Libby, B., Medkova, M., David, P. H., Kotsopoulos, S. K., Samuels, M. L., Hutchison, J. B., Larson, J. W., et al. (2009) · Nature Biotechnology · doi:10.1038/nbt.1583 · Cited by 454

The role of de novo mutations in the genetics of autism spectrum disorders

Ronemus, M., Iossifov, I., Levy, D., & Wigler, M. (2014) · Nature Reviews Genetics · doi:10.1038/nrg3585 · Cited by 390

Genome-Wide Comparison of Medieval and Modern Mycobacterium leprae

Schuenemann, V. J., Singh, P., Mendum, T. A., Krause-Kyora, B., Jäger, G., Bos, K. I., Herbig, A., Economou, C., Benjak, A., Busso, P., et al. (2013) · Science · doi:10.1126/science.1238286 · Cited by 358

Integrative analysis of the melanoma transcriptome

Berger, M. F., Levin, J. Z., Vijayendran, K., Sivachenko, A., Adiconis, X., Maguire, J., Johnson, L. A., Robinson, J., Verhaak, R. G., Sougnez, C., et al. (2010) · Genome Research · doi:10.1101/gr.103697.109 · Cited by 305

Ancient and modern environmental DNA

Pedersen, M. W., Overballe-Petersen, S., Ermini, L., Sarkissian, C. D., Haile, J., Hellstrom, M., Spens, J., Thomsen, P. F., Bohmann, K., Cappellini, E., et al. (2015) · Philosophical Transactions of the Royal Society B: Biological Sciences · doi:10.1098/rstb.2013.0383 · Cited by 329

Rare structural variants in schizophrenia: one disorder, multiple mutations; one mutation, multiple disorders

Sebat, J., Levy, D. L., & McCarthy, S. E. (2009) · Trends in Genetics · doi:10.1016/j.tig.2009.10.004 · Cited by 260

Patterns of coding variation in the complete exomes of three Neandertals

Castellano, S., Parra, G., Sánchez-Quinto, F. A., Racimo, F., Kuhlwilm, M., Kircher, M., Sawyer, S., Fu, Q., Heinze, A., Nickel, B., et al. (2014) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.1405138111 · Cited by 247

The genetic landscape of intellectual disability arising from chromosome X

Gécz, J., Shoubridge, C., & Corbett, M. (2009) · Trends in Genetics · doi:10.1016/j.tig.2009.05.002 · Cited by 207

The neandertal genome and ancient DNA authenticity

Green, R. E., Briggs, A. W., Krause, J., Prüfer, K., Burbano, H. A., Siebauer, M., Lachmann, M., & Pääbo, S. (2009) · The EMBO Journal · doi:10.1038/emboj.2009.222 · Cited by 190

Association screening of common and rare genetic variants by penalized regression

Zhou, H., Sehl, M. E., Sinsheimer, J. S., & Lange, K. (2010) · Bioinformatics · doi:10.1093/bioinformatics/btq448 · Cited by 137

SNES: single nucleus exome sequencing

Leung, M. L., Wang, Y., Waters, J., & Navin, N. E. (2015) · Genome Biology · doi:10.1186/s13059-015-0616-2 · Cited by 112

Exome Sequencing of a Multigenerational Human Pedigree

Hedges, D., Burges, D., Powell, E., Almonte, C., Huang, J., Young, S., Boese, B., Schmidt, M., Pericak-Vance, M. A., Martin, E., et al. (2009) · PLoS ONE · doi:10.1371/journal.pone.0008232 · Cited by 76

Mutation screening in 86 known X-linked mental retardation genes by droplet-based multiplex PCR and massive parallel sequencing

Hu, H., Wrogemann, K., Kalscheuer, V., Tzschach, A., Richard, H., Haas, S. A., Menzel, C., Bienek, M., Froyen, G., Raynaud, M., et al. (2009) · The HUGO Journal · doi:10.1007/s11568-010-9137-y · Cited by 49

Analysis of human accelerated DNA regions using archaic hominin genomes

Burbano, H. A., Green, R. E., Maricic, T., Lalueza-Fox, C., de la Rasilla, M., Rosas, A., Kelso, J., Pollard, K. S., Lachmann, M., & Pääbo, S. (2012) · PLoS ONE · doi:10.1371/journal.pone.0032877 · Cited by 46

Scalable and deep profiling of mRNA targets for individual microRNAs with chimeric eCLIP

Manakov, S. A., Shishkin, A. A., Yee, B. A., Shen, K. A., Cox, D. C., Park, S. S., Foster, H. M., Chapman, K. B., Yeo, G. W., & Van Nostrand, E. L. (2022) · doi:10.1101/2022.02.13.480296 · Cited by 43