Combining globally search for a regular expression and print matching lines with bibliographic monitoring of genomic database improves diagnosis
Sign Up to like & getrecommendations! Published in 2023 at "Frontiers in Genetics"
DOI: 10.3389/fgene.2023.1122985
Abstract: Introduction: Exome sequencing has a diagnostic yield ranging from 25% to 70% in rare diseases and regularly implicates genes in novel disorders. Retrospective data reanalysis has demonstrated strong efficacy in improving diagnosis, but poses organizational… read more here.
Keywords: expression print; bibliographic monitoring; diagnosis; globally search ... See more keywords