Your browser doesn't support javascript.
loading
Mapping MAVE data for use in human genomics applications.
Arbesfeld, Jeremy A; Da, Estelle Y; Stevenson, James S; Kuzma, Kori; Paul, Anika; Farris, Tierra; Capodanno, Benjamin J; Grindstaff, Sally B; Riehle, Kevin; Saraiva-Agostinho, Nuno; Safer, Jordan F; Milosavljevic, Aleksandar; Foreman, Julia; Firth, Helen V; Hunt, Sarah E; Iqbal, Sumaiya; Cline, Melissa S; Rubin, Alan F; Wagner, Alex H.
Afiliação
  • Arbesfeld JA; The Steve and Cindy Rasmussen Institute for Genomic Medicine, Nationwide Children's Hospital, Columbus, OH.
  • Da EY; Bioinformatics Division, The Walter and Eliza Hall Institute of Medical Research, Parkville, Australia.
  • Stevenson JS; The Steve and Cindy Rasmussen Institute for Genomic Medicine, Nationwide Children's Hospital, Columbus, OH.
  • Kuzma K; The Steve and Cindy Rasmussen Institute for Genomic Medicine, Nationwide Children's Hospital, Columbus, OH.
  • Paul A; The Steve and Cindy Rasmussen Institute for Genomic Medicine, Nationwide Children's Hospital, Columbus, OH.
  • Farris T; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX.
  • Capodanno BJ; Brotman Baty Institute for Precision Medicine, Seattle, WA, USA.
  • Grindstaff SB; Brotman Baty Institute for Precision Medicine, Seattle, WA, USA.
  • Riehle K; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX.
  • Saraiva-Agostinho N; European Molecular Biology Laboratory, European Bioinformatics Institute, Wellcome Genome Campus, Hinxton, Cambridge, CB10 1SD, United Kingdom.
  • Safer JF; The Center for the Development of Therapeutics, The Broad Institute of MIT and Harvard, Cambridge, MA.
  • Milosavljevic A; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX.
  • Foreman J; European Molecular Biology Laboratory, European Bioinformatics Institute, Wellcome Genome Campus, Hinxton, Cambridge, CB10 1SD, United Kingdom.
  • Firth HV; European Molecular Biology Laboratory, European Bioinformatics Institute, Wellcome Genome Campus, Hinxton, Cambridge, CB10 1SD, United Kingdom.
  • Hunt SE; European Molecular Biology Laboratory, European Bioinformatics Institute, Wellcome Genome Campus, Hinxton, Cambridge, CB10 1SD, United Kingdom.
  • Iqbal S; The Center for the Development of Therapeutics, The Broad Institute of MIT and Harvard, Cambridge, MA.
  • Cline MS; BRCA Exchange, University of California Santa Cruz, Santa Cruz, CA.
  • Rubin AF; Bioinformatics Division, The Walter and Eliza Hall Institute of Medical Research, Parkville, Australia.
  • Wagner AH; Department of Medical Biology, University of Melbourne, Parkville, Australia.
bioRxiv ; 2024 Jun 30.
Article em En | MEDLINE | ID: mdl-38979347
ABSTRACT
The large-scale experimental measures of variant functional assays submitted to MaveDB have the potential to provide key information for resolving variants of uncertain significance, but the reporting of results relative to assayed sequence hinders their downstream utility. The Atlas of Variant Effects Alliance mapped multiplexed assays of variant effect data to human reference sequences, creating a robust set of machine-readable homology mappings. This method processed approximately 2.5 million protein and genomic variants in MaveDB, successfully mapping 98.61% of examined variants and disseminating data to resources such as the UCSC Genome Browser and Ensembl Variant Effect Predictor.
Palavras-chave
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Idioma: En Revista: BioRxiv Ano de publicação: 2024 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Idioma: En Revista: BioRxiv Ano de publicação: 2024 Tipo de documento: Article