Combining globally search for a regular expression and print matching lines with bibliographic monitoring of genomic database improves diagnosis.

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 difficulties for clinical laboratories. Patients and methods: We applied a reanalysis strategy based on intensive prospective bibliographic monitoring along with direct application of the GREP command-line tool (to "globally search for a regular expression and print matching lines") in a large ES database. For 18 months, we submitted the same five keywords of interest [(intellectual disability, (neuro)developmental delay, and (neuro)developmental disorder)] to PubMed on a daily basis to i

SUBMITTER: Tran Mau-Them F 

PROVIDER: S-EPMC10157399 | biostudies-literature | 2023

REPOSITORIES: biostudies-literature