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Comparing complex variants in family trios.

ABSTRACT:

Motivation

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.

Results

We introduce VBT, a trio concordance analysis tool, which identifies Mendelian violations by approximately solving the 3-way variant matching problem to resolve variant representation differences in family trios. We show that VBT outperforms previous trio comparison methods by accuracy.

Availability and implementation

VBT is implemented in C++ and source code is available under GNU GPLv3 license at the following URL: https://github.com/sbg/VBT-TrioAnalysis.git.

Supplementary information

Supplementary data are available at Bioinformatics online.

SUBMITTER: Toptas BC

PROVIDER: S-EPMC6289131 | biostudies-literature | 2018 Dec

REPOSITORIES: biostudies-literature

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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]

PMID: 29868720

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