Genome analysis and knowledge-driven variant interpretation with TGex

• Автори: Dvir Dahary (Автор), Yaron Golan (Автор), Yaron Mazor (Автор), Ofer Zelig (Автор), Ruth Barshir (Автор), Michal Twik (Автор), Tsippi Iny Stein (Автор), Guy Rosner (Автор), Revital Kariv (Автор), Fei Chen (Автор), Qiang Zhang (Автор), Yiping Shen (Автор), Marilyn Safran (Автор), Doron Lancet (Автор), Simon Fishilevich (Автор)
• Формат: Книга
• Опубліковано: BMC, 2019-12-01T00:00:00Z.
• Предмети: article
• Онлайн доступ: Connect to this object online.

Abstract Background The clinical genetics revolution ushers in great opportunities, accompanied by significant challenges. The fundamental mission in clinical genetics is to analyze genomes, and to identify the most relevant genetic variations underlying a patient's phenotypes and symptoms. The...