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

BACKGROUND: The past few decades have witnessed a tremendous development in the field of genetics. The implementation of next generation sequencing (NGS) technologies revolutionized the field of molecular biology and made the genetic information accessible at a large scale. However, connecting a rar...

Descripción completa

Detalles Bibliográficos
Autores principales: 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
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2019
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6341681/
https://www.ncbi.nlm.nih.gov/pubmed/30665423
http://dx.doi.org/10.1186/s12920-019-0474-y

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6341681/
https://www.ncbi.nlm.nih.gov/pubmed/30665423
http://dx.doi.org/10.1186/s12920-019-0474-y

Ejemplares similares