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

• Published in: BMC medical genomics Vol. 12; no. 1; p. 11
• Main Authors: 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
• Format: Journal Article
• Language: English
• Published: England BioMed Central Ltd 21.01.2019; BioMed Central; BMC
• Subjects: Biochemistry, Molecular Biology; Bioinformatics; Computational biology; Deoxyribonucleic acid; Diagnosis; Disease; DNA; Exome; Exome - genetics; Exome sequencing; Gene mutation; Genes; Genetic aspects; Genetic counseling; Genetic diagnostics; Genetic Diseases, Inborn - diagnosis; Genetic Diseases, Inborn - genetics; Genetic disorders; Genetic diversity; Genetic heterogeneity; Genetic research; Genetic screening; Genetics; Genomes; Genomics; Health aspects; High throughput sequencing; High-Throughput Nucleotide Sequencing; High-throughput screening (Biochemical assaying); Human genetics; Human health and pathology; Humans; Laboratories; Lebanese; Lebanon; Life Sciences; Medical genetics; Medical research; Metabolic disorders; Molecular biology; Molecular Diagnostic Techniques; Mutation; Mutations; Neurodevelopmental disorders; Next-generation sequencing; NGS; Novels; Pathogenicity; Patients; Phenotypes; Phenotypic variations; Technology; Whole Exome Sequencing; Lebanon; Exome; Lebanon; Mutations; High throughput sequencing; NGS; Genetic heterogeneity; Genetic diagnostics

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 rare genetic va...