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...

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Vydáno v:BMC Med Genomics
Hlavní autoři: 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
Médium: Artigo
Jazyk:Inglês
Vydáno: BioMed Central 2019
Témata:
Research Article
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC6341681/
https://ncbi.nlm.nih.gov/pubmed/30665423
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12920-019-0474-y
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