Seave: a comprehensive web platform for storing and interrogating human genomic variation.

ABSTRACT:

Motivation

Genome sequencing has had a remarkable impact on our ability to study the effects of human genetic variation, however, variant interpretation remains the major bottleneck. Understanding the potential impact of variants, including structural variants, requires extensive annotation from disparate sources of knowledge, and in silico prediction algorithms.

Results

We introduce Seave, an intuitive web platform that enables all types of variants to be securely stored, annotated and filtered. Variants are annotated with allele frequencies and pathogenicity assessments from many popular databases and in silico pathogenicity prediction scores. Seave enables filtering of variants with specific inheritance patterns, including somatic variants, by quality, allele frequencies

SUBMITTER: Gayevskiy V 

PROVIDER: S-EPMC6298057 | biostudies-literature | 2019 Jan

REPOSITORIES: biostudies-literature