ReliableGenome : annotation of genomic regions with high/low variant calling concordance

The increasing adoption of clinical whole-genome resequencing (WGS) demands for highly-accurate and reproducible variant calling (VC) methods. The observed discordance between state-of-the-art VC pipelines, however, indicates that the current practice still suffers from non-negligible numbers of fal...

Full description

Bibliographic Details
Main Authors: Popitsch, N, Schuh, A, Taylor, J
Format: Journal article
Language:English
Published: Oxford University Press 2016