Using MARRVEL v1.2 for Bioinformatics Analysis of Human Genes and Variant Pathogenicity

作     者：Wang, Julia Mao, Dongxue Fazal, Fatima Kim, Seon-Young Yamamoto, Shinya Bellen, Hugo Liu, Zhandong 

作者机构：Program in Developmental Biology Medical Scientist Training Program Baylor College of Medicine Houston TX United States Department of Pediatrics-Neurology Jan and Dan Duncan Neurological Research Institute at Texas Children's Hospital Baylor College of Medicine Houston TX United States Jan and Dan Duncan Neurological Research Institute at Texas Children's Hospital Baylor College of Medicine Houston TX United States Department of Molecular and Human Genetics Baylor College of Medicine Howard Hughes Medical Institute Houston TX United States Department of Molecular and Human Genetics Baylor College of Medicine Jan and Dan Duncan Neurological Research Institute Texas Children's Hospital Houston TX United States Department of Neuroscience Baylor College of Medicine Jan and Dan Duncan Neurological Research Institute Texas Children's Hospital Houston TX United States Program in Developmental Biology Baylor College of Medicine Jan and Dan Duncan Neurological Research Institute Texas Children's Hospital Houston TX United States Department of Pediatrics Jan and Dan Duncan Neurological Research Institute at Texas Children's Hospital Houston TX United States Computational and Integrative Biomedical Research Center Baylor College of Medicine Houston TX United States Department of Pediatrics-Neurology Baylor College of Medicine Houston TX United States 

出 版 物：《Current Protocols in Bioinformatics》 (Curr. Protoc. Bioinform.)

年 卷 期：2019年第67卷第1期

页      面：Using MARRVEL vl.2 for/1-Using MARRVEL vl.2 for/24页

学科分类：0710[理学-生物学] 07[理学] 09[农学] 0703[理学-化学] 

基　　金：Huffington Foundation NIH National Institute of General Medical Science Stand By ELI Foundation US National Institutes of Health National Institutes of Health, NIH, (R24OD022005, U54NS093793) National Institutes of Health, NIH Howard Hughes Medical Institute, HHMI National Institute on Aging, NIA, (R01AG057339) National Institute on Aging, NIA National Institute on Deafness and Other Communication Disorders, NIDCD, (R01DC014932) National Institute on Deafness and Other Communication Disorders, NIDCD National Institute of General Medical Sciences, NIGMS, (R01GM067858, R01GM120033) National Institute of General Medical Sciences, NIGMS National Institute of Child Health and Human Development, NICHD, (F30HD094503) National Institute of Child Health and Human Development, NICHD Simons Foundation, SF, (368479) Simons Foundation, SF Alzheimer's Association, AA, (15‐364099) Alzheimer's Association, AA Robert and Janice McNair Foundation Naman Family Fund for Basic Research Eunice Kennedy Shriver National Institute of Child Health and Human Development, NICHD Ting Tsung and Wei Fong Chao Family Foundation, (1R01AG057339, 5R01GM120033) Ting Tsung and Wei Fong Chao Family Foundation 

主　　题：genes of unknown significance genetics genomics databases model organisms variants of unknown significance 

摘      要：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. © 2019 John Wiley & Sons, Inc.