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Page 1
Whole-exome sequencing of 14 389 individuals from the ESP and CHARGE consortia identifies novel rare variation associated with hemostatic factors.
Pankratz N, Wei P, Brody JA, Chen MH, de Vries PS, Huffman JE, Stimson MR, Auer PL, Boerwinkle E, Cushman M, de Maat MPM, Folsom AR, Franco OH, Gibbs RA, Haagenson KK, Hofman A, Johnsen JM, Kovar CL, Kraaij R, McKnight B, Metcalf GA, Muzny D, Psaty BM, Tang W, Uitterlinden AG, van Rooij JGJ, Dehghan A, O'Donnell CJ, Reiner AP, Morrison AC, Smith NL. Pankratz N, et al. Among authors: kovar cl. Hum Mol Genet. 2022 Sep 10;31(18):3120-3132. doi: 10.1093/hmg/ddac100. Hum Mol Genet. 2022. PMID: 35552711 Free PMC article.
Loader Lite: a new software tool for the ABI PRISM 3700 DNA sequencer.
Scott GB, Steffen DL, Edgar D, Warren JT, Kovár CL, Scherer SE, Havlak PH, Gibbs RA. Scott GB, et al. Among authors: kovar cl. Biotechniques. 2002 Jun;32(6):1366, 1368, 1370-1. doi: 10.2144/02326bc01. Biotechniques. 2002. PMID: 12074168 Free article.
A collagen-binding adhesin, Acb, and ten other putative MSCRAMM and pilus family proteins of Streptococcus gallolyticus subsp. gallolyticus (Streptococcus bovis Group, biotype I).
Sillanpää J, Nallapareddy SR, Qin X, Singh KV, Muzny DM, Kovar CL, Nazareth LV, Gibbs RA, Ferraro MJ, Steckelberg JM, Weinstock GM, Murray BE. Sillanpää J, et al. Among authors: kovar cl. J Bacteriol. 2009 Nov;191(21):6643-53. doi: 10.1128/JB.00909-09. Epub 2009 Aug 28. J Bacteriol. 2009. PMID: 19717590 Free PMC article.
Whole exome capture in solution with 3 Gbp of data.
Bainbridge MN, Wang M, Burgess DL, Kovar C, Rodesch MJ, D'Ascenzo M, Kitzman J, Wu YQ, Newsham I, Richmond TA, Jeddeloh JA, Muzny D, Albert TJ, Gibbs RA. Bainbridge MN, et al. Genome Biol. 2010;11(6):R62. doi: 10.1186/gb-2010-11-6-r62. Epub 2010 Jun 17. Genome Biol. 2010. PMID: 20565776 Free PMC article.
Diversity of human copy number variation and multicopy genes.
Sudmant PH, Kitzman JO, Antonacci F, Alkan C, Malig M, Tsalenko A, Sampas N, Bruhn L, Shendure J; 1000 Genomes Project; Eichler EE. Sudmant PH, et al. Science. 2010 Oct 29;330(6004):641-6. doi: 10.1126/science.1197005. Science. 2010. PMID: 21030649 Free PMC article.
Complete genome sequence of Enterococcus faecium strain TX16 and comparative genomic analysis of Enterococcus faecium genomes.
Qin X, Galloway-Peña JR, Sillanpaa J, Roh JH, Nallapareddy SR, Chowdhury S, Bourgogne A, Choudhury T, Muzny DM, Buhay CJ, Ding Y, Dugan-Rocha S, Liu W, Kovar C, Sodergren E, Highlander S, Petrosino JF, Worley KC, Gibbs RA, Weinstock GM, Murray BE. Qin X, et al. BMC Microbiol. 2012 Jul 7;12:135. doi: 10.1186/1471-2180-12-135. BMC Microbiol. 2012. PMID: 22769602 Free PMC article.
Exome sequencing resolves apparent incidental findings and reveals further complexity of SH3TC2 variant alleles causing Charcot-Marie-Tooth neuropathy.
Lupski JR, Gonzaga-Jauregui C, Yang Y, Bainbridge MN, Jhangiani S, Buhay CJ, Kovar CL, Wang M, Hawes AC, Reid JG, Eng C, Muzny DM, Gibbs RA. Lupski JR, et al. Among authors: kovar cl. Genome Med. 2013 Jun 27;5(6):57. doi: 10.1186/gm461. eCollection 2013. Genome Med. 2013. PMID: 23806086 Free PMC article.
The Cancer Genome Atlas Pan-Cancer analysis project.
Cancer Genome Atlas Research Network; Weinstein JN, Collisson EA, Mills GB, Shaw KR, Ozenberger BA, Ellrott K, Shmulevich I, Sander C, Stuart JM. Cancer Genome Atlas Research Network, et al. Nat Genet. 2013 Oct;45(10):1113-20. doi: 10.1038/ng.2764. Nat Genet. 2013. PMID: 24071849 Free PMC article.
Targeted sequencing in candidate genes for atrial fibrillation: the Cohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE) Targeted Sequencing Study.
Lin H, Sinner MF, Brody JA, Arking DE, Lunetta KL, Rienstra M, Lubitz SA, Magnani JW, Sotoodehnia N, McKnight B, McManus DD, Boerwinkle E, Psaty BM, Rotter JI, Bis JC, Gibbs RA, Muzny D, Kovar CL, Morrison AC, Gupta M, Folsom AR, Kääb S, Heckbert SR, Alonso A, Ellinor PT, Benjamin EJ; CHARGE Atrial Fibrillation Working Group. Lin H, et al. Among authors: kovar cl. Heart Rhythm. 2014 Mar;11(3):452-7. doi: 10.1016/j.hrthm.2013.11.012. Epub 2013 Nov 14. Heart Rhythm. 2014. PMID: 24239840 Free PMC article.
Strategies to design and analyze targeted sequencing data: cohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE) Consortium Targeted Sequencing Study.
Lin H, Wang M, Brody JA, Bis JC, Dupuis J, Lumley T, McKnight B, Rice KM, Sitlani CM, Reid JG, Bressler J, Liu X, Davis BC, Johnson AD, O'Donnell CJ, Kovar CL, Dinh H, Wu Y, Newsham I, Chen H, Broka A, DeStefano AL, Gupta M, Lunetta KL, Liu CT, White CC, Xing C, Zhou Y, Benjamin EJ, Schnabel RB, Heckbert SR, Psaty BM, Muzny DM, Cupples LA, Morrison AC, Boerwinkle E. Lin H, et al. Among authors: kovar cl. Circ Cardiovasc Genet. 2014 Jun;7(3):335-43. doi: 10.1161/CIRCGENETICS.113.000350. Circ Cardiovasc Genet. 2014. PMID: 24951659 Free PMC article.
77 results