High-throughput interpretation of gene structure changes in human and nonhuman resequencing data, using ACE.

ABSTRACT:

Motivation

The accurate interpretation of genetic variants is critical for characterizing genotype-phenotype associations. Because the effects of genetic variants can depend strongly on their local genomic context, accurate genome annotations are essential. Furthermore, as some variants have the potential to disrupt or alter gene structure, variant interpretation efforts stand to gain from the use of individualized annotations that account for differences in gene structure between individuals or strains.

Results

We describe a suite of software tools for identifying possible functional changes in gene structure that may result from sequence variants. ACE ('Assessing Changes to Exons') converts phased genotype calls to a collection of explicit haplotype sequences, maps transcr

SUBMITTER: Majoros WH 

PROVIDER: S-EPMC5860548 | biostudies-literature | 2017 May

REPOSITORIES: biostudies-literature