Solution hybrid selection with ultra-long oligonucleotides for massively parallel targeted sequencing
Open accessAbstract
Targeting genomic loci by massively parallel sequencing requires new methods to enrich templates to be sequenced. We developed a capture method that uses biotinylated RNA 'baits' to fish targets out of a 'pond' of DNA fragments. The RNA is transcribed from PCR-amplified oligodeoxynucleotides originally synthesized on a microarray, generating sufficient bait for multiple captures at concentrations high enough to drive the hybridization. We tested this method with 170-mer baits that target >15,000 coding exons (2.5 Mb) and four regions (1.7 Mb total) using Illumina sequencing as read-out. About 90% of uniquely aligning bases fell on or near bait sequence; up to 50% lay on exons proper. The uniformity was such that approximately 60% of target bases in the exonic 'catch', and approximately 80% in the regional catch, had at least half the mean coverage. One lane of Illumina sequence was sufficient to call high-confidence genotypes for 89% of the targeted exon space.
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In genome research, an average sequence coverage depth of 30-fold has been accepted as sufficient for detecting single-nucleotide polymorphisms and nucleotide insertions or deletions.
“In genome research, an average depth of sequence coverage of 30-fold has been accepted as sufficient for single-nucleotide polymorphism (SNP) and nucleotide insertion or deletion (indel) detection (15–22).”
From Carrier testing for severe childhood recessive diseases by next-generation sequencing (2011) · cites this paper as [15]
The Results (Accuracy of SNP detection; page not provided) say SNP-detection sensitivity is mainly limited by sequence coverage. The paper does not identify 30-fold average coverage as a sufficient threshold, and the Methods (Computational methods; page not provided) state that insertions and deletions were not considered. (LLM, conf=0.84)
Experimental — accuracy not yet measuredTarget capture and next-generation sequencing have shown efficacy and, recently, scalability for resequencing human genomes and exomes.
“Target capture and next-generation sequencing (NGS) have shown efficacy and, recently, scalability for resequencing human genomes and exomes, providing an alternative potential paradigm for comprehensive carrier testing (15–22).”
From Carrier testing for severe childhood recessive diseases by next-generation sequencing (2011) · cites this paper as [15]
The Results (Capturing and sequencing exon targets; Reproducibility, pages unavailable) demonstrate capture and next-generation sequencing of more than 15,000 human coding exons, with high-confidence genotypes across most of the targeted space. The introductory text reports that whole human genomes had been sequenced with next-generation instruments. The paper does not demonstrate target capture at whole-exome or whole-genome scale, so the scalability claim is supported for large targeted subsets rather than those complete targets. (LLM, conf=0.84)
Experimental — accuracy not yet measuredPreliminary experiments suggested that Agilent SureSelect hybrid capture and RainDance microdroplet polymerase chain reaction, but not Febit HybSelect microarray-based capture or Olink padlock probe ligation and PCR, yielded consistent target enrichment.
“Preliminary experiments suggested that existing protocols for Agilent SureSelect hybrid capture (15) and RainDance microdroplet polymerase chain reaction (PCR) (16) but not Febit HybSelect microarray-based biochip capture (30) or Olink padlock probe ligation and PCR (31) yielded consistent target enrichment.”
From Carrier testing for severe childhood recessive diseases by next-generation sequencing (2011) · cites this paper as [15]
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“Now oligo pools are also being used routinely for targeted capture and resequencing of exons and other genomic regions of interest [60] [61] [62] [63] [64] as well as to study genetic regulatory mechanisms such as genome-wide CpG methylation 65, 66 , RNA editing 67 and allele-specific expression 68 Figure 4 | Comparis…”
MethodLandscape of genomic alterations in cervical carcinomas
Ojesina, A. I., Lichtenstein, L., Freeman, S. S., Pedamallu, C. S., Imaz-Rosshandler, I., Pugh, T. J., Cherniack, A. D., Ambrogio, L., Cibulskis, K., Bertelsen, B. I., et al. (2013) · Nature · doi:10.1038/nature12881 · Cited by 861 · see citing works
Self-citationJohnson, M. G., Gardner, E. M., Liu, Y., Medina, R., Goffinet, B., Shaw, A. J., Zerega, N. J. C., & Wickett, N. J. (2016) · Applications in Plant Sciences · doi:10.3732/apps.1600016 · Cited by 830 · see citing works
Anchored Hybrid Enrichment for Massively High-Throughput Phylogenomics
Lemmon, A. R., Emme, S. A., & Lemmon, E. M. (2012) · Systematic Biology · doi:10.1093/sysbio/sys049 · Cited by 837 · see citing works
“sequence capture) uses oligonucleotides as baits that hybridize to genomic fragments containing the target sequence and allows target loci to be separated from nontarget regions of the genome (Albert et al. 2007; Gnirke et al. 2009).”
BackgroundExploiting the Mutanome for Tumor Vaccination
Castle, J. C., Kreiter, S., Diekmann, J., Löwer, M., van de Roemer, N., de Graaf, J., Selmi, A., Diken, M., Boegel, S., Paret, C., et al. (2012) · Cancer Research · doi:10.1158/0008-5472.can-11-3722 · Cited by 802 · see citing works
“Exome capture for DNA resequencing was carried out in triplicate with the Agilent mouse whole-exome SureSelect assay (9).”
MethodNational Institute of Diabetes and Digestive Kidney Diseases Inflammatory Bowel Disease Genetics Consortium (NIDDK IBDGC), Rivas, M. A., United Kingdom Inflammatory Bowel Disease Genetics Consortium, International Inflammatory Bowel Disease Genetics Consortium, Beaudoin, M., Gardet, A., Stevens, C., Sharma, Y., Zhang, C. K., Boucher, G., et al. (2011) · Nature Genetics · doi:10.1038/ng.952 · Cited by 771 · see citing works
Self-citationExome Sequencing, <i>ANGPTL3</i> Mutations, and Familial Combined Hypolipidemia
Musunuru, K., Pirruccello, J. P., Do, R., Peloso, G. M., Guiducci, C., Sougnez, C., Garimella, K. V., Fisher, S., Abreu, J., Barry, A. J., et al. (2010) · New England Journal of Medicine · doi:10.1056/nejmoa1002926 · Cited by 754 · see citing works
Self-citationIntegrated genomic characterization of adrenocortical carcinoma
Assié, G., Letouzé, E., Fassnacht, M., Jouinot, A., Luscap, W., Barreau, O., Omeiri, H., Rodriguez, S., Perlemoine, K., René-Corail, F., et al. (2014) · Nature Genetics · doi:10.1038/ng.2953 · Cited by 732 · see citing works
Germline mutations in BAP1 predispose to melanocytic tumors
Wiesner, T., Obenauf, A. C., Murali, R., Fried, I., Griewank, K., Ulz, P., Windpassinger, C., Wackernagel, W., Loy, S., Wolf, I. H., et al. (2011) · Nature Genetics · doi:10.1038/ng.910 · Cited by 726 · see citing works
Carrier testing for severe childhood recessive diseases by next-generation sequencing
Bell, C. J., Dinwiddie, D. L., Miller, N. A., Hateley, S. L., Ganusova, E. E., Mudge, J., Langley, R. J., Zhang, L., Lee, C. C., Schilkey, F. D., et al. (2011) · Science Translational Medicine · doi:10.1126/scitranslmed.3001756 · Cited by 706 · see citing works
“SureSelect enrichment of 6-, 8-, or 12-plex pooled libraries was per Agilent protocols (15), with 100 ng of custom bait library, blocking oligonucleotides specific for paired-end sequencing libraries and 60-hour hybridization.”
BackgroundMethodDevelopmental and oncogenic programs in H3K27M gliomas dissected by single-cell RNA-seq
Filbin, M. G., Tirosh, I., Hovestadt, V., Shaw, M. L., Escalante, L. E., Mathewson, N. D., Neftel, C., Frank, N., Pelton, K., Hebert, C. M., et al. (2018) · Science · doi:10.1126/science.aao4750 · Cited by 699 · see citing works
Exome sequencing identifies rare LDLR and APOA5 alleles conferring risk for myocardial infarction
Do, R., Stitziel, N. O., Won, H.-H., Jørgensen, A. B., Duga, S., Angelica Merlini, P., Kiezun, A., Farrall, M., Goel, A., Zuk, O., et al. (2015) · Nature · doi:10.1038/nature13917 · Cited by 650 · see citing works
Self-citationFisher, S., Barry, A. J., Abreu, J., Minie, B., Nolan, J., Delorey, T. M., Young, G., Fennell, T. J., Allen, A., Ambrogio, L., et al. (2011) · Genome biology · doi:10.1186/gb-2011-12-1-r1 · Cited by 683 · see citing works
Self-citationHigh‐throughput DNA sequencing – concepts and limitations
Kircher, M., & Kelso, J. F. (2010) · BioEssays · doi:10.1002/bies.200900181 · Cited by 675 · see citing works
Library construction for next-generation sequencing: Overviews and challenges
Head, S. R., Komori, H. K., LaMere, S. A., Whisenant, T. C., Nieuwerburgh, F. V., Salomon, D. R., & Ordoukhanian, P. T. (2014) · BioTechniques · doi:10.2144/000114133 · Cited by 673 · see citing works
Applications of next-generation sequencing to phylogeography and phylogenetics
McCormack, J. E., Hird, S. M., Zellmer, A. J., Carstens, B. C., & Brumfield, R. T. (2011) · Molecular Phylogenetics and Evolution · doi:10.1016/j.ympev.2011.12.007 · Cited by 642 · see citing works
“1c), fragmented gDNA is mixed with DNA or RNA probes, which hybridize to gDNA fragments either on an array (Albert et al., 2007; Hodges et al., 2007; Okou et al., 2007) or in solution (Gnirke et al., 2009; Maricic et al., 2010).”
BackgroundThe emerging clinical relevance of genomics in cancer medicine
Berger, M. F., & Mardis, E. R. (2018) · Nature Reviews Clinical Oncology · doi:10.1038/s41571-018-0002-6 · Cited by 627 · see citing works
Ancient gene flow from early modern humans into Eastern Neanderthals
Kuhlwilm, M., Gronau, I., Hubisz, M. J., de Filippo, C., Prado-Martinez, J., Kircher, M., Fu, Q., Burbano, H. A., Lalueza-Fox, C., de la Rasilla, M., et al. (2016) · Nature · doi:10.1038/nature16544 · Cited by 577 · see citing works
Oncogenic and drug-sensitive NTRK1 rearrangements in lung cancer
Vaishnavi, A., Capelletti, M., Le, A. T., Kako, S. L., Butaney, M., Ercan, D., Mahale, S., Davies, K. D., Aisner, D. L., Pilling, A. B., et al. (2013) · Nature Medicine · doi:10.1038/nm.3352 · Cited by 615 · see citing works
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 · see citing works
“(25) that uses oligonucleotides synthesized on arrays to construct probe libraries that are then amplified and converted into biotinylated RNA capture probes through in vitro transcription.”
BackgroundAdvancements in Next-Generation Sequencing
Levy, S., & Myers, R. (2016) · Annual Review of Genomics and Human Genetics · doi:10.1146/annurev-genom-083115-022413 · Cited by 598 · see citing works
Rademakers, R., Baker, M., Nicholson, A. M., Rutherford, N. J., Finch, N., Soto-Ortolaza, A., Lash, J., Wider, C., Wojtas, A., DeJesus-Hernandez, M., et al. (2012) · Nature Genetics · doi:10.1038/ng.1027 · Cited by 571 · see citing works
Parks, M., Cronn, R., & Liston, A. (2009) · BMC Biology · doi:10.1186/1741-7007-7-84 · Cited by 354 · see citing works
The impact of next-generation sequencing on genomics
Zhang, J., Chiodini, R., Badr, A., & Zhang, G. (2011) · Journal of Genetics and Genomics · doi:10.1016/j.jgg.2011.02.003 · Cited by 577 · see citing works
“The most common techniques for targeted sequence enrichment are either microarray-based (Summerer et al., 2009, 2010; Zheng et al., 2009; Igartua et al., 2010) or solution hybrid-based (Gnirke et al., 2009; Tewhey et al., 2009; Bainbridge et al., 2010).”
MethodPartial 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 · see citing works
The Genomic Landscape of Pediatric Ewing Sarcoma
Crompton, B. D., Stewart, C., Taylor-Weiner, A. N., Alexe, G., Kurek, K. C., Calicchio, M. L., Kieżun, A., Carter, S. L., Shukla, S. A., Mehta, S. S., et al. (2014) · Cancer Discovery · doi:10.1158/2159-8290.cd-13-1037 · Cited by 573 · see citing works
“Whole-exome sequencing Library construction followed procedures as previously reported (60).”
MethodMultiplexed DNA Sequence Capture of Mitochondrial Genomes Using PCR Products
Maričić, T., Whitten, M., & Pääbo, S. (2010) · PLoS ONE · doi:10.1371/journal.pone.0014004 · Cited by 566 · see citing works
Zanoni, P., Khetarpal, S. A., Larach, D. B., Hancock-Cerutti, W. F., Millar, J. S., Cuchel, M., DerOhannessian, S., Kontush, A., Surendran, P., Saleheen, D., et al. (2016) · Science · doi:10.1126/science.aad3517 · Cited by 545 · see citing works
Relapsed neuroblastomas show frequent RAS-MAPK pathway mutations
Eleveld, T. F., Oldridge, D. A., Bernard, V., Köster, J., Daage, L. C., Diskin, S. J., Schild, L. G., Bessoltane, N., Bellini, A., Chicard, M., et al. (2015) · Nature Genetics · doi:10.1038/ng.3333 · Cited by 536 · see citing works
Wagle, N., Berger, M. F., Davis, M. J., Blumenstiel, B. S., DeFelice, M. T., Pochanard, P., Ducar, M. D., Hummelen, P. V., MacConaill, L. E., Hahn, W. C., et al. (2011) · Cancer Discovery · doi:10.1158/2159-8290.cd-11-0184 · Cited by 526 · see citing works
Self-citationGenetic heterogeneity of diffuse large B-cell lymphoma
Zhang, J., Grubor, V. D., Love, C., Banerjee, A., Richards, K. L., Mieczkowski, P. A., Dunphy, C. H., Choi, W., Au, W. Y., Srivastava, G., et al. (2013) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.1205299110 · Cited by 527 · see citing works
“These overall patterns of genetic variation in the DLBCL exomes are quite similar to what we would expect in the variation of normal exomes We performed whole-exome sequencing for all of these DLBCL and paired normal cases using the Agilent solution– based system of exon capture, which targets the NCBI Consensus CDS d…”
MethodCostello, M., Pugh, T. J., Fennell, T. J., Stewart, C., Lichtenstein, L., Meldrim, J. C., Fostel, J., Friedrich, D. C., Perrin, D., Dionne, D. A., et al. (2013) · Nucleic Acids Research · doi:10.1093/nar/gks1443 · Cited by 523 · see citing works
Self-citationPlimack, E. R., Dunbrack, R. L., Brennan, T. A., Andrake, M., Zhou, Y., Serebriiskii, I. G., Slifker, M. J., Alpaugh, K. R., Dulaimi, E., Palma, N. A., et al. (2015) · European Urology · doi:10.1016/j.eururo.2015.07.009 · Cited by 521 · see citing works
“and ligation of indexed Illumina (San Diego, CA, USA) sequencing adaptors [11].”
BackgroundPerformance comparison of exome DNA sequencing technologies
Clark, M. J., Chen, R., Lam, H. Y. K., Karczewski, K. J., Chen, R., Euskirchen, G. M., Butte, A. J., & Snyder, M. P. (2011) · Nature Biotechnology · doi:10.1038/nbt.1975 · Cited by 509 · see citing works
High-Throughput Genomic Data in Systematics and Phylogenetics
Lemmon, E. M., & Lemmon, A. R. (2013) · Annual Review of Ecology Evolution and Systematics · doi:10.1146/annurev-ecolsys-110512-135822 · Cited by 506 · see citing works
“The biotinylated probes, which form RNA-DNA complexes with target regions, are then captured with magnetic streptavidin-coated beads, unbound DNA is washed from the beads, and the captured DNA is then amplified via PCR using primers specific to adapters added during DNA library construction (Gnirke et al. 2009).”
BackgroundMethodInfluentialMethods for mapping 3D chromosome architecture
Kempfer, R., & Pombo, A. (2019) · Nature Reviews Genetics · doi:10.1038/s41576-019-0195-2 · Cited by 502 · see citing works
Recurrent AAV2-related insertional mutagenesis in human hepatocellular carcinomas
Nault, J.-C., Datta, S., Imbeaud, S., Franconi, A., Mallet, M., Couchy, G., Letouzé, E., Pilati, C., Verret, B., Blanc, J.-F., et al. (2015) · Nature Genetics · doi:10.1038/ng.3389 · Cited by 489 · see citing works
Targeted Retrieval and Analysis of Five Neandertal mtDNA Genomes
Briggs, A. W., Good, J. M., Green, R. E., Krause, J., Maričić, T., Stenzel, U., Lalueza‐Fox, C., Rudan, P., Brajković, D., Kućan, Ž., et al. (2009) · Science · doi:10.1126/science.1174462 · Cited by 501 · see citing works
A TALEN Genome-Editing System for Generating Human Stem Cell-Based Disease Models
Ding, Q., Lee, Y., Schaefer, E. A. K., Peters, D., Veres, A., Kim, K. J., Kuperwasser, N., Motola, D., Meissner, T. B., Hendriks, W. T. J., et al. (2012) · Cell stem cell · doi:10.1016/j.stem.2012.11.011 · Cited by 501 · see citing works
“Exome and Whole-Genome Sequence Analyses Exome sequencing and whole-genome sequencing were performed as previously described (Gnirke et al., 2009; Stransky et al., 2011).”
MethodDeng, J., Shoemaker, R., Xie, B., Gore, A., LeProust, E. M., Antosiewicz‐Bourget, J., Egli, D. M., Maherali, N., Park, I., Yu, J., et al. (2009) · Nature Biotechnology · doi:10.1038/nbt.1530 · Cited by 491 · see citing works
Self-citationAnnotating non-coding regions of the genome.
Alexander, R. P., Fang, G., Rozowsky, J., Snyder, M., & Gerstein, M. B. (2010) · Nature Reviews Genetics · doi:10.1038/nrg2814 · Cited by 464 · see citing works
RAD Capture (Rapture): Flexible and Efficient Sequence-Based Genotyping
Ali, O. A., O’Rourke, S. M., Amish, S. J., Meek, M. H., Luikart, G., Jeffres, C. A., & Miller, M. R. (2015) · Genetics · doi:10.1534/genetics.115.183665 · Cited by 477 · see citing works
“Multiple plate libraries are pooled, hybridized to biotinylated oligonucleotide baits corresponding to the targeted RAD tag loci, and captured to produce the final library enriched for the loci of interest.”
BackgroundMethodMolecular Diagnosis of Infantile Mitochondrial Disease with Targeted Next-Generation Sequencing
Calvo, S. E., Compton, A. G., Hershman, S. G., Lim, S. C., Lieber, D. S., Tucker, E. J., Laskowski, A., Garone, C., Liu, S., Jaffe, D. B., et al. (2012) · Science Translational Medicine · doi:10.1126/scitranslmed.3003310 · Cited by 476 · see citing works
Self-citationThe pluripotent regulatory circuitry connecting promoters to their long-range interacting elements
Schoenfelder, S., Furlan-Magaril, M., Mifsud, B., Tavares-Cadete, F., Sugar, R., Javierre, B.-M., Nagano, T., Katsman, Y., Sakthidevi, M., Wingett, S. W., et al. (2015) · Genome Research · doi:10.1101/gr.185272.114 · Cited by 460 · see citing works
“6% for FLC, in line with previously reported sequence capture approaches (Gnirke et al. 2009).”
InfluentialSelf-citationExome sequencing identifies GRIN2A as frequently mutated in melanoma
Program, N. C. S., Wei, X., Walia, V., Lin, J., Teer, J. K., Prickett, T. D., Gartner, J. J., Davis, S. R., Stemke‐Hale, K., Davies, M. A., et al. (2011) · Nature Genetics · doi:10.1038/ng.810 · Cited by 463 · see citing works
Hagman, K. D. F., Shahmirzadi, L., El‐Khechen, D., Powis, Z., Chao, E., Davis, B. T., Baxter, R. M., Zeng, W., Mroske, C., Parra, M. C., et al. (2014) · Genetics in Medicine · doi:10.1038/gim.2014.154 · Cited by 469 · see citing works
Exome sequencing supports a de novo mutational paradigm for schizophrenia
Xu, B., Roos, J. L., Dexheimer, P. J., Boone, B. E., Plummer, B., Levy, S., Gogos, J. A., & Karayiorgou, M. (2011) · Nature Genetics · doi:10.1038/ng.902 · Cited by 465 · see citing works
Recurrent SomaticDICER1Mutations in Nonepithelial Ovarian Cancers
Heravi‐Moussavi, A., Anglesio, M. S., Cheng, S., Senz, J., Yang, W., Prentice, L., Fejes, A. P., Chow, C., Tone, A. A., Kalloger, S. E., et al. (2011) · New England Journal of Medicine · doi:10.1056/nejmoa1102903 · Cited by 462 · see citing works
Adaptive mutability of colorectal cancers in response to targeted therapies
Russo, M., Crisafulli, G., Sogari, A., Reilly, N. M., Arena, S., Lamba, S., Bartolini, A., Amodio, V., Magrì, A., Novara, L., et al. (2019) · Science · doi:10.1126/science.aav4474 · Cited by 433 · see citing works
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 · see citing works
Versatile design and synthesis platform for visualizing genomes with Oligopaint FISH probes
Beliveau, B. J., Joyce, E. F., Apostolopoulos, N., Yilmaz, F., Fonseka, C. Y., McCole, R. B., Chang, Y. K., Li, J. B., Senaratne, T. N., Williams, B. R., et al. (2012) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.1213818110 · Cited by 459 · see citing works
“(46, XY) metaphase spreads were obtained from Abbott Molecular (30-806010).”
BackgroundMethodClimate refugia: joint inference from fossil records, species distribution models and phylogeography
Gavin, D. G., Fitzpatrick, M. C., Gugger, P. F., Heath, K. D., Rodríguez‐Sánchez, F., Dobrowski, S. Z., Hampe, A., Hu, F. S., Ashcroft, M. B., Bartlein, P. J., et al. (2014) · New Phytologist · doi:10.1111/nph.12929 · Cited by 462 · see citing works
Jiménez-Sánchez, A., Memon, D., Pourpe, S., Veeraraghavan, H., Li, Y., Vargas, H. A., Gill, M. B., Park, K. J., Zivanovic, O., Konner, J. A., et al. (2017) · Cell · doi:10.1016/j.cell.2017.07.025 · Cited by 449 · see citing works
Mutation Profiling in Cholangiocarcinoma: Prognostic and Therapeutic Implications
Churi, C. R., Shroff, R. T., Wang, Y., Rashid, A., Kang, H. C., Weatherly, J., Zuo, M., Zinner, R., Hong, D. S., Meric‐Bernstam, F., et al. (2014) · PLoS ONE · doi:10.1371/journal.pone.0115383 · Cited by 450 · see citing works
“NGS performed by Foundation Medicine used the Illumina Hiseq 2000 Platform for 236 targetable GA’s and the methods for the same have been described previously [13, 14].”
MethodPrognostic and predictive biomarkers in breast cancer: Past, present and future
Nicolini, A., Ferrari, P., & Duffy, M. J. (2017) · Seminars in Cancer Biology · doi:10.1016/j.semcancer.2017.08.010 · Cited by 430 · see citing works
Readfish enables targeted nanopore sequencing of gigabase-sized genomes
Payne, A., Holmes, N., Clarke, T., Munro, R., Debebe, J., & Loose, M. (2020) · Nature Biotechnology · doi:10.1038/s41587-020-00746-x · Cited by 408 · see citing works
What can exome sequencing do for you?
Majewski, J., Schwartzentruber, J., Lalonde, E., Montpetit, A., & Jabado, N. (2011) · Journal of Medical Genetics · doi:10.1136/jmedgenet-2011-100223 · Cited by 384 · see citing works
DNA sequencing technologies: 2006–2016
Mardis, E. R. (2017) · Nature Protocols · doi:10.1038/nprot.2016.182 · Cited by 392 · see citing works
Mutational Profile of Metastatic Breast Cancers: A Retrospective Analysis
Lefèbvre, C., Bachelot, T., Filleron, T., Pedrero, M., Campone, M., Soria, J., Massard, C., Lévy, C., Arnedos, M., Lacroix‐Triki, M., et al. (2016) · PLoS Medicine · doi:10.1371/journal.pmed.1002201 · Cited by 394 · see citing works
Massively Parallel Sequencing: The Next Big Thing in Genetic Medicine
Tucker, T., Marra, M. A., & Friedman, J. M. (2009) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2009.06.022 · Cited by 384 · see citing works
- Authors
- Gnirke, A., Melnikov, A., Maguire, J., Rogov, P., LeProust, E. M., Brockman, W., Fennell, T., Giannoukos, G., Fisher, S., Russ, C., Gabriel, S., Jaffe, D. B., Lander, E. S., & Nusbaum, C.
- Affiliations
- Broad Institute (US)
- Agilent Technologies (United States) (US)
- Corresponding author
- Gnirke, Andreas
- ORCID
- Venue
- Nature Biotechnology
- Published
- 2009-02
- Volume
- 27
- Issue
- 2
- Pages
- 182-189
- ISSN
- 0733-222X (ISSN-L)
- 1087-0156
- 1546-1696
- PMC
- PMC2663421
- OpenAlex
- W2121531763
- Cited by
- 1,433
- References
- 25
- Citations by year
- 2026: 23 · 2025: 48 · 2024: 70 · 2023: 54 · 2022: 56 · 2021: 64 · 2020: 67 · 2019: 70 · 2018: 86 · 2017: 85 · 2016: 105 · 2015: 108 · 2014: 105 · 2013: 110 · 2012: 130
- FWCI
- 51.05
- Type
- journal article
- Language
- en
- Open access
- green
- www.ncbi.nlm.nih.gov
- Licence
- www.springer.com/tdm (tdm)
- Locations
- Nature Biotechnology (publishedVersion)
- PubMed (publishedVersion)
- PubMed Central (acceptedVersion)
- Funders
- Broad Institute
- National Human Genome Research Institute (U54HG003067, HG03067-05)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Genomics and Phylogenetic Studies
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomics and Rare Diseases
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomic variations and chromosomal abnormalities
- Keywords
- targeted sequencing, DNA capture, exon capture, next-generation sequencing, genotype calling, human genome
- MeSH terms
- Base Composition, Bayes Theorem, Exons, Humans, Nucleic Acid Hybridization, Oligonucleotides, Sensitivity and Specificity, Reproducibility of Results, Polymerase Chain Reaction, Sequence Analysis, DNA, Biotinylation, Oligonucleotide Array Sequence Analysis, Polymorphism, Single Nucleotide, Genomics
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