Répertoire de l'Université Alfonso X el Sabio

ClinGen Expert Clinical Validity Curation of 164 Hearing Loss Gene-Disease Pairs

Afficher la notice abrégée

APA

DiStefano, Marina T. & Hemphill, Sarah E. & Oza, Andrea M. & Siegert, Rebecca K. & Grant, Andrew R. & Y. Hughes, Madeline & Cushman, Brandon J. & Azaiez, Hela & Booth, Kevin T. & Chapin, Alex & Duzkale, Hatice & Matsunaga, Tatsuo & Shen, Jun & Zhang, Wenying & Kenna, Margaret & Schimmenti & Tekin, Mustafa & Rehm, Heidi L. & Abou Tayoun, Ahmad N. & Amr, Sami S. & ClinGen Hearing Loss Clinical Domain Working Group & Moreno Pelayo, Miguel Angel (2009-06 ) .ClinGen Expert Clinical Validity Curation of 164 Hearing Loss Gene-Disease Pairs.

ISO 690

DiStefano, Marina T. & Hemphill, Sarah E. & Oza, Andrea M. & Siegert, Rebecca K. & Grant, Andrew R. & Y. Hughes, Madeline & Cushman, Brandon J. & Azaiez, Hela & Booth, Kevin T. & Chapin, Alex & Duzkale, Hatice & Matsunaga, Tatsuo & Shen, Jun & Zhang, Wenying & Kenna, Margaret & Schimmenti & Tekin, Mustafa & Rehm, Heidi L. & Abou Tayoun, Ahmad N. & Amr, Sami S. & ClinGen Hearing Loss Clinical Domain Working Group & Moreno Pelayo, Miguel Angel. 2009-06 .ClinGen Expert Clinical Validity Curation of 164 Hearing Loss Gene-Disease Pairs.

https://hdl.handle.net/20.500.12080/39724
dc.contributor.author DiStefano, Marina T.
dc.contributor.author Hemphill, Sarah E.
dc.contributor.author Oza, Andrea M.
dc.contributor.author Siegert, Rebecca K.
dc.contributor.author Grant, Andrew R.
dc.contributor.author Y. Hughes, Madeline
dc.contributor.author Cushman, Brandon J.
dc.contributor.author Azaiez, Hela
dc.contributor.author Booth, Kevin T.
dc.contributor.author Chapin, Alex
dc.contributor.author Duzkale, Hatice
dc.contributor.author Matsunaga, Tatsuo
dc.contributor.author Shen, Jun
dc.contributor.author Zhang, Wenying
dc.contributor.author Kenna, Margaret
dc.contributor.author Schimmenti
dc.contributor.author Tekin, Mustafa
dc.contributor.author Rehm, Heidi L.
dc.contributor.author Abou Tayoun, Ahmad N.
dc.contributor.author Amr, Sami S.
dc.contributor.author ClinGen Hearing Loss Clinical Domain Working Group
dc.contributor.author Moreno Pelayo, Miguel Angel
dc.date.accessioned 2024-02-12T14:45:47Z
dc.date.available 2024-02-12T14:45:47Z
dc.date.created 2009-06
dc.date.issued 2009-06
dc.identifier.uri https://hdl.handle.net/20.500.12080/39724
dc.description.abstract Purpose: Proper interpretation of genomic variants is critical to successful medical decision making based on genetic testing results. A fundamental prerequisite to accurate variant interpretation is the clear understanding of the clinical validity of gene-disease relationships. The Clinical Genome Resource (ClinGen) has developed a semi-quantitative framework to assign clinical validity to gene-disease relationships. Methods: The ClinGen Hearing Loss Gene Curation Expert Panel (HL GCEP) uses this framework to perform evidence-based curations of genes present on testing panels from 17 clinical laboratories in the Genetic Testing Registry. The HL GCEP curated and reviewed 142 genes and 164 gene-disease pairs, including 105 nonsyndromic and 59 syndromic forms of hearing loss. Results: The final outcome included 82 Definitive (50%), 12 Strong (7%), 25 Moderate (15%), 32 Limited (20%), 10 Disputed (6%), and 3 Refuted (2%) classifications. The summary of each curation is date stamped with the HL GCEP approval, is live, and will be kept up-to-date on the ClinGen website (https://search.clinicalgenome.org/kb/gene-validity). Conclusion: This gene curation approach serves to optimize the clinical sensitivity of genetic testing while reducing the rate of uncertain or ambiguous test results caused by the interrogation of genes with insufficient evidence of a disease link. Keywords gene curation; ClinGen; deafness; genetic diagnosis; hearing loss es_ES
dc.format application/pdf es_ES
dc.language eng es_ES
dc.rights CC-BY es_ES
dc.rights.uri http://creativecommons.org/licenses/by/4.0/deed.es es_ES
dc.title ClinGen Expert Clinical Validity Curation of 164 Hearing Loss Gene-Disease Pairs es_ES
dc.type info:eu-repo/semantics/article es_ES
dc.rights.accessrights info:eu-repo/semantics/openAccess es_ES
dc.identifier.location N/A es_ES


Fichier(s) constituant ce document

Ce document figure dans la(les) collection(s) suivante(s)

Afficher la notice abrégée

CC-BY Excepté là où spécifié autrement, la license de ce document est décrite en tant que CC-BY

Chercher dans le dépôt


Parcourir

Mon compte

Social Media