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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Bibliografische gegevens
Gepubliceerd in:BMC Med Genomics
Hoofdauteurs: 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
Formaat: Artigo
Taal:Inglês
Gepubliceerd in: BioMed Central 2019
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Research Article
Online toegang: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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