Pitfalls of exome sequencing: a case study of the attribution of HABP2 rs7080536 in familial non-medullary thyroid cancer

Abstract Next-generation sequencing using exome capture is a common approach used for analysis of familial cancer syndromes. Despite the development of robust computational algorithms, the accrued experience of analyzing exome data sets and published guidelines, the analytical process remains an ad...

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Bibliographic Details
Main Authors: Glenn S. Gerhard, Darrin V. Bann, James Broach, David Goldenberg
Format: Article
Language:English
Published: Nature Portfolio 2017-03-01
Series:npj Genomic Medicine
Online Access:https://doi.org/10.1038/s41525-017-0011-x