Year: 2017
Type: article
Abstract: Integrative analysis of whole-genome/exome-sequencing data has been challenging, especially for the non-programming research community, as it requires simultaneously managing a large number of computational tools. Even computational biologists find it unexpectedly difficult to reproduce results from others or optimize their strategies in an end-to-end workflow. We introduce Germline Mutation Scoring Tool fOr Next-generation sEquencing data (GeMSTONE), a cloud-based variant prioritization tool with high-level customization and a comprehensive collection of bioinformatics tools and data libraries (http://gemstone.yulab.org/). GeMSTONE generates and readily accepts a shareable 'recipe' file for each run to either replicate previous results or analyze new data with identical parameters and provides a centralized workflow for prioritizing germline mutations in human disease within a streamlined workflow rather than a pool of program executions.
Source: Nucleic Acids Research
DOI: 10.1093/nar/gkx398
Language: English
Topic: Genomics and Rare Diseases
Subfield: Genetics
Domain: Life Sciences
Open Access status: gold
Estimated APC paid: $3,992
Funders: Fundación Científica Asociación Española Contra el Cáncer, Generalitat de Catalunya, National Institutes of Health, Agència de Gestió d'Ajuts Universitaris i de Recerca, Instituto de Salud Carlos III, National Human Genome Research Institute, National Cancer Institute, National Institute of General Medical Sciences, National Institute of Child Health and Human Development, National Center for Advancing Translational Sciences, Eunice Kennedy Shriver National Institute of Child Health and Human Development
Awards: Whole Genome Sequencing to Discover Familial Myeloma Risk Genes, G3445619555, G393133288, Towards a comprehensive protein interactome network in Schizosaccharomyces pombe, G5312756924, G5503942651, Identification and Functional Validation of Human Infertility Alleles, Using Protein Interactome Networks to Understand the Functional Role of Coding DN, G6692840757, Clinical and Translational Science Center, High-throughput functional characterization of human enhancers, Computational Methods for Unraveling Combinatorial Gene Regulation
OpenAlex ID: W2949484021