Comparing complex variants in family trios.
Ontology highlight
ABSTRACT:
SUBMITTER: Toptas BC
PROVIDER: S-EPMC6289131 | biostudies-literature | 2018 Dec
REPOSITORIES: biostudies-literature
Publications
Comparing complex variants in family trios.
Toptas Berke Ç BÇ Rakocevic Goran G Kómár Péter P Kural Deniz D
Bioinformatics (Oxford, England) 20181201 24
<h4>Motivation</h4>Several tools exist to count Mendelian violations in family trios by comparing variants at the same genomic positions. This naive variant comparison, however, fails to assess regions where multiple variants need to be examined together, resulting in reduced accuracy of existing Mendelian violation checking tools.<h4>Results</h4>We introduce VBT, a trio concordance analysis tool, which identifies Mendelian violations by approximately solving the 3-way variant matching problem t ...[more]
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