Expanding families: a pilot study on preconception expanded carrier screening in Bahrain

• Asıl Yazarlar: Cristina Skrypnyk (Yazar), Rawan AlHarmi (Yazar), Aanchal Mathur (Yazar), Hussein Hifnawi AlHafnawi (Yazar), Sri Hari Chandan Appikonda (Yazar), Lova Satyanarayana Matsa (Yazar)
• Materyal Türü: Kitap
• Baskı/Yayın Bilgisi: BMC, 2024-10-01T00:00:00Z.
• Konular: article
• Online Erişim: Connect to this object online.

Abstract Background Preconception expanded carrier screening (ECS) is a genetic test that enables the identification of at-risk carriers of recessive disorders by screening for up to hundreds of genes. Next-generation sequencing (NGS) development has paved the way for its integration into ECS. This...