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

• Главные авторы: Nadine Jalkh (Автор), Sandra Corbani (Автор), Zahraa Haidar (Автор), Nadine Hamdan (Автор), Elias Farah (Автор), Joelle Abou Ghoch (Автор), Rouba Ghosn (Автор), Nabiha Salem (Автор), Ali Fawaz (Автор), Claudia Djambas Khayat (Автор), Mariam Rajab (Автор), Chebl Mourani (Автор), Adib Moukarzel (Автор), Simon Rassi (Автор), Bernard Gerbaka (Автор), Hicham Mansour (Автор), Malek Baassiri (Автор), Rawane Dagher (Автор), David Breich (Автор), André Mégarbané (Автор), Jean Pierre Desvignes (Автор), Valérie Delague (Автор), Cybel Mehawej (Автор), Eliane Chouery (Автор)
• Формат: ‌
• Опубликовано: BMC, 2019-01-01T00:00:00Z.
• Предметы: article
• Online-ссылка: Connect to this object online.

Abstract 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, connecti...