Genomic testing in 1019 individuals from 349 Pakistani families results in high diagnostic yield and clinical utility.
Genetics research
Medical genetics
Molecular medicine
Journal
NPJ genomic medicine
ISSN: 2056-7944
Titre abrégé: NPJ Genom Med
Pays: England
ID NLM: 101685193
Informations de publication
Date de publication:
2020
2020
Historique:
received:
16
03
2020
accepted:
06
08
2020
entrez:
21
10
2020
pubmed:
22
10
2020
medline:
22
10
2020
Statut:
epublish
Résumé
We implemented a collaborative diagnostic program in Lahore (Pakistan) aiming to establish the genetic diagnosis, and to asses diagnostic yield and clinical impact in patients with suspected genetic diseases. Local physicians ascertained pediatric patients who had no previous access to genetic testing. More than 1586 genetic tests were performed in 1019 individuals (349 index cases, 670 relatives). Most frequently performed tests were exome/genome sequencing (ES/GS, 284/78 index cases) and specific gene panels (55 index cases). In 61.3% of the patients (
Identifiants
pubmed: 33083013
doi: 10.1038/s41525-020-00150-z
pii: 10.1038/s41525-020-00150-z
pmc: PMC7536406
doi:
Types de publication
Journal Article
Langues
eng
Pagination
44Informations de copyright
© The Author(s) 2020.
Déclaration de conflit d'intérêts
Competing interestsThe authors A.M.B.-A., V.S., C.B., J.P.-L., M.E.R., S.A., C.P., M.H., N.A., I.P., O.P., C.C., P.B., A.R. are employees at CENTOGENE, AG. None of the other authors declared a potential competing interest.
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