Analysis workflow to assess de novo genetic variants from human whole-exome sequencing.
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ABSTRACT:
SUBMITTER: Diab NS
PROVIDER: S-EPMC7960548 | biostudies-literature | 2021 Mar
REPOSITORIES: biostudies-literature
Publications
Analysis workflow to assess <i>de novo</i> genetic variants from human whole-exome sequencing.
Diab Nicholas S NS King Spencer S Dong Weilai W Allington Garrett G Sheth Amar A Peters Samuel T ST Kahle Kristopher T KT Jin Sheng Chih SC
STAR protocols 20210310 1
Here, we present a protocol to analyze <i>de novo</i> genetic variants derived from the whole-exome sequencing (WES) of proband-parent trios. We provide stepwise instructions for using existing pipelines to call <i>de novo</i> mutations (DNMs) and determine whether the observed number of such mutations is enriched relative to the expected number. This protocol may be extended to any human disease trio-based cohort. Cohort size is a limiting determinant to the discovery of high-confidence pathoge ...[more]
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