A suite of automated sequence analyses reduces the number of candidate deleterious variants and reveals a difference between probands and unaffected siblings.

ABSTRACT:

Purpose

Develop an automated exome analysis workflow that can produce a very small number of candidate variants yet still detect different numbers of deleterious variants between probands and unaffected siblings.

Methods

Ninety-seven outbred nuclear families from the Undiagnosed Diseases Program/Network included single probands and the corresponding unaffected sibling(s). Single-nucleotide polymorphism (SNP) chip and exome analyses were performed on all, with proband and unaffected sibling considered independently as the target. The total burden of candidate genetic variants was summed for probands and siblings over all considered disease models.

Results

Exome analysis workflow include automated programs for ethnicity-matched genotype calling, salvage pathway for Mend

SUBMITTER: Gu F 

PROVIDER: S-EPMC6669106 | biostudies-literature | 2019 Aug

REPOSITORIES: biostudies-literature