MutaFrame-an interpretative visualization framework for deleteriousness prediction of missense variants in the human exome.

ABSTRACT:

Motivation

High-throughput experiments are generating ever increasing amounts of various -omics data, so shedding new light on the link between human disorders, their genetic causes and the related impact on protein behavior and structure. While numerous bioinformatics tools now exist that predict which variants in the human exome cause diseases, few tools predict the reasons why they might do so. Yet, understanding the impact of variants at the molecular level is a prerequisite for the rational development of targeted drugs or personalized therapies.

Results

We present the updated MutaFrame webserver, which aims to meet this need. It offers two deleteriousness prediction softwares, DEOGEN2 and SNPMuSiC, and is designed for bioinformaticians and medical researchers who want

SUBMITTER: Ancien F 

PROVIDER: S-EPMC8696112 | biostudies-literature | 2021 Dec

REPOSITORIES: biostudies-literature