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Good laboratory practice for clinical next-generation sequencing informatics pipelines.

作者信息

Gargis Amy S, Kalman Lisa, Bick David P, da Silva Cristina, Dimmock David P, Funke Birgit H, Gowrisankar Sivakumar, Hegde Madhuri R, Kulkarni Shashikant, Mason Christopher E, Nagarajan Rakesh, Voelkerding Karl V, Worthey Elizabeth A, Aziz Nazneen, Barnes John, Bennett Sarah F, Bisht Himani, Church Deanna M, Dimitrova Zoya, Gargis Shaw R, Hafez Nabil, Hambuch Tina, Hyland Fiona C L, Luna Ruth Ann, MacCannell Duncan, Mann Tobias, McCluskey Megan R, McDaniel Timothy K, Ganova-Raeva Lilia M, Rehm Heidi L, Reid Jeffrey, Campo David S, Resnick Richard B, Ridge Perry G, Salit Marc L, Skums Pavel, Wong Lee-Jun C, Zehnbauer Barbara A, Zook Justin M, Lubin Ira M

机构信息

Division of Laboratory Systems, Centers for Disease Control and Prevention, Atlanta, Georgia, USA.

Department of Pediatrics, Medical College of Wisconsin, Milwaukee, Wisconsin, USA.

出版信息

Nat Biotechnol. 2015 Jul;33(7):689-93. doi: 10.1038/nbt.3237.

DOI:10.1038/nbt.3237

原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC6504172/

Abstract

摘要

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本文引用的文献

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Integrating human sequence data sets provides a resource of benchmark SNP and indel genotype calls.

Nat Biotechnol. 2014-2-16

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ACMG recommendations on incidental findings are flawed scientifically and ethically.

Genet Med. 2013-9

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Science. 2013-5-31

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Trends Biotechnol. 2013-8

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Nat Biotechnol. 2012-11

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Carrier testing for severe childhood recessive diseases by next-generation sequencing.

Sci Transl Med. 2011-1-12

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A standard variation file format for human genome sequences.

Genome Biol. 2010-8-26

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Nat Methods. 2008-10

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