gene.iobio: an interactive web tool for versatile, clinically-driven variant interrogation and prioritization.


Journal

medRxiv : the preprint server for health sciences
Titre abrégé: medRxiv
Pays: United States
ID NLM: 101767986

Informations de publication

Date de publication:
06 Nov 2020
Historique:
entrez: 11 11 2020
pubmed: 12 11 2020
medline: 12 11 2020
Statut: epublish

Résumé

With increasing utilization of comprehensive genomic data to guide clinical care, anticipated to become the standard of care in many clinical settings, the practice of diagnostic medicine is undergoing a notable shift. However, the move from single-gene or panel-based genetic testing to exome and genome sequencing has not been matched by the development of tools to enable diagnosticians to interpret increasingly complex genomic findings. A new paradigm has emerged, where genome-based tests are often evaluated by a large multi-disciplinary collaborative team, typically including a diagnostic pathologist, a bioinformatician, a genetic counselor, and often a subspeciality clinician. This team-based approach calls for new computational tools to allow every member of the clinical care provider team, at varying levels of genetic knowledge and diagnostic expertise, to quickly and easily analyze and interpret complex genomic data. Here, we present

Identifiants

pubmed: 33173897
doi: 10.1101/2020.11.05.20224865
pmc: PMC7654889
pii:
doi:

Types de publication

Preprint

Langues

eng

Subventions

Organisme : NHGRI NIH HHS
ID : R44 HG009096
Pays : United States
Organisme : NHGRI NIH HHS
ID : R01 HG009000
Pays : United States
Organisme : NHGRI NIH HHS
ID : R01 HG012286
Pays : United States
Organisme : NHGRI NIH HHS
ID : R01 HG009712
Pays : United States
Organisme : NHGRI NIH HHS
ID : R41 HG009096
Pays : United States
Organisme : NHGRI NIH HHS
ID : R43 HG009868
Pays : United States
Organisme : NHGRI NIH HHS
ID : R41 HG009629
Pays : United States

Commentaires et corrections

Type : UpdateIn

Auteurs

Classifications MeSH