Actionable Exomic Secondary Findings in 280 Lebanese Participants
The expanded use of NGS tests in genetic diagnosis enables the massive generation of data related to each individual, among which some findings are of medical value. Over the last three and a half years, 280 unrelated Lebanese patients, presenting a wide spectrum of genetic disorders were referred t...
Main Authors: | Nadine Jalkh, Cybel Mehawej, Eliane Chouery |
---|---|
Format: | Article |
Language: | English |
Published: |
Frontiers Media S.A.
2020-03-01
|
Series: | Frontiers in Genetics |
Subjects: | |
Online Access: | https://www.frontiersin.org/article/10.3389/fgene.2020.00208/full |
Similar Items
-
The added value of WES reanalysis in the field of genetic diagnosis: lessons learned from 200 exomes in the Lebanese population
by: Nadine Jalkh, et al.
Published: (2019-01-01) -
Frequency and spectrum of actionable pathogenic secondary findings in Taiwanese exomes
by: Chieh‐Wen Kuo, et al.
Published: (2020-10-01) -
Secondary findings in 421 whole exome-sequenced Chinese children
by: Wen Chen, et al.
Published: (2018-09-01) -
Parental understanding of whole exome sequencing: A comparison of perceived and actual understanding.
by: Tolusso, Leandra K.
Published: (2016) -
First molecular study in Lebanese patients with Cockayne syndrome and report of a novel mutation in ERCC8 gene
by: Alain Chebly, et al.
Published: (2018-09-01)