Ontology highlight
ABSTRACT:
SUBMITTER: Kronenberg ZN
PROVIDER: S-EPMC4666669 | biostudies-other | 2015 Dec
REPOSITORIES: biostudies-other
Kronenberg Zev N ZN Osborne Edward J EJ Cone Kelsey R KR Kennedy Brett J BJ Domyan Eric T ET Shapiro Michael D MD Elde Nels C NC Yandell Mark M
PLoS computational biology 20151201 12
Existing methods for identifying structural variants (SVs) from short read datasets are inaccurate. This complicates disease-gene identification and efforts to understand the consequences of genetic variation. In response, we have created Wham (Whole-genome Alignment Metrics) to provide a single, integrated framework for both structural variant calling and association testing, thereby bypassing many of the difficulties that currently frustrate attempts to employ SVs in association testing. Here ...[more]