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Measuring How Many Pathogenic Variants Are Uncovered By Exome Sequencing

Kocarnik, Jonathan (2013) Measuring How Many Pathogenic Variants Are Uncovered By Exome Sequencing. Science Spotlight, 3 (11).

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Article URL: http://www.sciencedirect.com/science/article/pii/S...
Item Type: Article
Additional Information: Dorschner MO, Amendola LM, Turner EH, Robertson PD, Shirts BH, Gallego CJ, Bennett RL, Jones KL, Tokita MJ, Bennett JT, Kim JH, Rosenthal EA, Kim DS, National Heart, Lung, and Blood Institute Grand Opportunity Exome Sequencing Project, Tabor HK, Bamshad MJ, Motulsky AG, Scott CR, Pritchard CC, Walsh T, Burke W, Raskind WH, Byers P, Hisama FM, Nickerson DA, Jarvik GP. 2013. Actionable, pathogenic incidental findings in 1,000 participants’ exomes. Am J Hum Genet. 93(4):631-40. See also: Green RC, Berg JS, Grody WW, Kalia SS, Korf BR, Martin CL, McGuire AL, Nussbaum RL, O’Daniel JM, Ormond KE, Rehm HL, Watson MS, Williams MS, Biesecker LG. 2013. ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing. Genet Med 15(7):565-74.
Collections: Science Spotlight
Depositing User: Ben Abraham
Date Deposited: 19 Mar 2015 20:01
Last Modified: 19 Mar 2015 20:01
URI: http://authors.fhcrc.org/id/eprint/738

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