Functional annotation of genomic variants in studies of late-onset Alzheimer's disease.

ABSTRACT:

Motivation

Annotation of genomic variants is an increasingly important and complex part of the analysis of sequence-based genomic analyses. Computational predictions of variant function are routinely incorporated into gene-based analyses of rare-variants, though to date most studies use limited information for assessing variant function that is often agnostic of the disease being studied.

Results

In this work, we outline an annotation process motivated by the Alzheimer's Disease Sequencing Project, illustrate the impact of including tissue-specific transcript sets and sources of gene regulatory information and assess the potential impact of changing genomic builds on the annotation process. While these factors only impact a small proportion of total variant annotations (∼5%)

SUBMITTER: Butkiewicz M 

PROVIDER: S-EPMC6084586 | biostudies-literature | 2018 Aug

REPOSITORIES: biostudies-literature