{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"omics_type":["Unknown"],"volume":["3(10)"],"submitter":["Won HH"],"pubmed_abstract":["<h4>Background</h4>With the recent growth of information on sequence variations in the human genome, predictions regarding the functional effects and relevance to disease phenotypes of coding sequence variations are becoming increasingly important. The aims of this study were to catalog protein-coding sequence variations (CVs) occurring in genetic variation databases and to use bioinformatic programs to analyze CVs. In addition, we aim to provide insight into the functionality of the reference databases.<h4>Methodology and findings</h4>To catalog CVs on a genome-wide scale with regard to protein function and disease, we investigated three representative databases; the Human Gene Mutation Database (HGMD), the Single Nucleotide Polymorphisms database (dbSNP), and the Haplotype Map (HapMap). "],"journal":["PloS one"],"pagination":["e3575"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC2570488"],"repository":["biostudies-literature"],"pubmed_title":["Cataloging coding sequence variations in human genome databases."],"pmcid":["PMC2570488"],"pubmed_authors":["Lee KA","Kim HJ","Kim JW","Won HH"],"additional_accession":[]},"is_claimable":false,"name":"Cataloging coding sequence variations in human genome databases.","description":"<h4>Background</h4>With the recent growth of information on sequence variations in the human genome, predictions regarding the functional effects and relevance to disease phenotypes of coding sequence variations are becoming increasingly important. The aims of this study were to catalog protein-coding sequence variations (CVs) occurring in genetic variation databases and to use bioinformatic programs to analyze CVs. In addition, we aim to provide insight into the functionality of the reference databases.<h4>Methodology and findings</h4>To catalog CVs on a genome-wide scale with regard to protein function and disease, we investigated three representative databases; the Human Gene Mutation Database (HGMD), the Single Nucleotide Polymorphisms database (dbSNP), and the Haplotype Map (HapMap). ","dates":{"release":"2008-01-01T00:00:00Z","publication":"2008","modification":"2026-05-01T06:40:19.603Z","creation":"2019-03-26T23:02:41Z"},"accession":"S-EPMC2570488","cross_references":{"pubmed":["18974781"],"doi":["10.1371/journal.pone.0003575"]}}