Using MARRVEL v1.2 for Bioinformatics Analysis of Human Genes and Variant Pathogenicity
Year: 2019
Type: article
Abstract: One of the greatest challenges in the bioinformatic analysis of human sequencing data is identifying which variants are pathogenic. Numerous databases and tools have been generated to address this difficulty. However, these many useful data and tools are broadly dispersed, requiring users to search for their variants of interest through human genetic databases, variant function prediction tools, and model organism databases. To solve this problem, we collected data and observed workflows of human geneticists, clinicians, and model organism researchers to carefully select and display valuable information that facilitates the evaluation of whether a variant is likely to be pathogenic. This program, Model organism Aggregated Resources for Rare Variant ExpLoration (MARRVEL) v1.2, allows users to collect relevant data from 27 public sources for further efficient bioinformatic analysis of the pathogenicity of human variants. © 2019 by John Wiley & Sons, Inc.
DOI: 10.1002/cpbi.85
Language: English
Topic: Genomics and Rare Diseases
Subfield: Genetics
Domain: Life Sciences
Open Access status: green
Funders: National Science Foundation, Howard Hughes Medical Institute, Simons Foundation, Alzheimer's Association, Robert and Janice McNair Foundation, Naman Family Fund for Basic Research, National Institutes of Health, National Institute on Aging, National Institute on Deafness and Other Communication Disorders, National Institute of General Medical Sciences, National Institute of Neurological Disorders and Stroke, Eunice Kennedy Shriver National Institute of Child Health and Human Development
Awards: G1959195751, G2711403535, G4655440239, Center for functional analysis of human UDN gene homologs in Drosophila and zebrafish, A multi-species approach to find regulators of deafness genes, G5887586051, Role of Oxidative Resistance 1 (OXR1) in Diagnosis and Pathogenesis of Neurodevelopmental Disorders, Functional Dissection of Alzheimer's Disease Networks in Drosophila: from Association to Causal Modulators of Age-Dependent Neurodegeration, A Comprehensive Resource for Manipulating the Drosophila Genome, A Human cDNA Library for Functional Gene Replacement in Drosophila, Advanced Computational Approaches for NMR Data-mining
OpenAlex ID: W2963789487