A comparative study of mutation screening of sarcomeric genes (MYBPC3, MYH7, TNNT2) using single gene approach versus targeted gene panel next generation sequencing in a cohort of HCM patients in Egypt

A comparative study of mutation screening of sarcomeric genes (MYBPC3, MYH7, TNNT2) using single gene approach versus targeted gene panel next generation sequencing in a cohort of HCM patients in Egypt

Background: NGS enables simultaneous sequencing of large numbers of associated genes in genetic heterogeneous disorders, in a more rapid and cost-effective manner than traditional technologies. However there have been limited direct comparisons between NGS and more established technologies to assess...

תיאור מלא

מידע ביבליוגרפי
Main Authors: Heba Sh. Kassem, Roddy Walsh, Paul J. Barton, Besra S. Abdelghany, Remon S. Azer, Rachel Buchan, Shibu John, Ahmed Elguindy, Sarah Moharem-ElGamal, Hala M. Badran, Hoda Shehata, Stuart A. Cook, Magdi H. Yacoub
פורמט: Article
שפה:English
יצא לאור: SpringerOpen 2017-10-01
סדרה:Egyptian Journal of Medical Human Genetics
גישה מקוונת:http://www.sciencedirect.com/science/article/pii/S1110863017300459

אינטרנט

http://www.sciencedirect.com/science/article/pii/S1110863017300459

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