Novel findings with reassessment of exome data: implications for validation testing and interpretation of genomic data.

doi:10.1038/gim.2017.153

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Article

Novel findings with reassessment of exome data: implications for validation testing and interpretation of genomic data.

Genetics in medicine : official journal of the American College of Medical Genetics - 1 Mar 2018

Gibson Kristin McDonald, Nesbitt Addie, Cao Kajia, Yu Zhenming, Denenberg Elizabeth, DeChene Elizabeth, Guan Qiaoning, Bhoj Elizabeth, Zhou Xiangdong, Zhang Bo, Wu Chao, Dubbs Holly, Wilkens Alisha, Medne Livija, Bedoukian Emma, White Peter S, Pennington Jeffrey, Luo Minjie, Conlin Laura, Monos Dimitri, Sarmady Mahdi, Marsh Eric, Zackai Elaine, Spinner Nancy, Krantz Ian, Deardorff Matt, Santani Avni

Abstract excerpt

PurposeThe objective of this study was to assess the ability of our laboratory's exome-sequencing test to detect known and novel sequence variants and identify the critical factors influencing the interpretation of a clinical exome test.MethodsWe developed a two-tiered validation strategy: (i) a method-based approach that assessed the ability of our exome test to detect known variants using a reference HapMap...

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PMID: 29389922
DOI: 10.1038/gim.2017.153

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