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...
Main Authors: | , , , |
---|---|
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 |