The added value of WES reanalysis in the field of genetic diagnosis: lessons learned from 200 exomes in the Lebanese population-Reference-Cited by-同舟云学术

The added value of WES reanalysis in the field of genetic diagnosis: lessons learned from 200 exomes in the Lebanese population

Published:2019-01-21 Issue:1 Volume:12 Page:
ISSN:1755-8794
Container-title:BMC Medical Genomics
language:en
Short-container-title:BMC Med Genomics

Author:

Jalkh Nadine,Corbani Sandra,Haidar Zahraa,Hamdan Nadine,Farah Elias,Abou Ghoch Joelle,Ghosn Rouba,Salem Nabiha,Fawaz Ali,Djambas Khayat Claudia,Rajab Mariam,Mourani Chebl,Moukarzel Adib,Rassi Simon,Gerbaka Bernard,Mansour Hicham,Baassiri Malek,Dagher Rawane,Breich David,Mégarbané André,Desvignes Jean Pierre,Delague Valérie,Mehawej Cybel,Chouery Eliane^ORCID

Funder

Saint Joseph University

Publisher

Springer Science and Business Media LLC

Subject

Genetics (clinical),Genetics

Link

http://link.springer.com/content/pdf/10.1186/s12920-019-0474-y.pdf

Reference20 articles.

1. Green ED, Guyer MS. National Human Genome Research Institute. Charting a course for genomic medicine from base pairs to bedside. Nature. 2011;470:204–13.

2. Soden SE, Saunders CJ, Willig LK, Farrow EG, Smith LD, Petrikin JE, et al. Effectiveness of exome and genome sequencing guided by acuity of illness for diagnosis of neurodevelopmental disorders. Sci Transl Med. 2014;6:265ra168.

3. Bonnefond A, Durand E, Sand O, De Graeve F, Gallina S, Busiah K, et al. Molecular diagnosis of neonatal diabetes mellitus using next-generation sequencing of the whole exome. PLoS One. 2010;5:e13630.