NGS-based expanded carrier screening for genetic disorders in North Indian population reveals unexpected results - a pilot study

• Main Authors: Kanika Singh (Author), Sunita Bijarnia-Mahay (Author), V. L. Ramprasad (Author), Ratna Dua Puri (Author), Sandhya Nair (Author), Sheetal Sharda (Author), Renu Saxena (Author), Sudha Kohli (Author), Samarth Kulshreshtha (Author), Indrani Ganguli (Author), Kanwal Gujral (Author), Ishwar C. Verma (Author)
• Format: Book
• Published: BMC, 2020-11-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

Abstract Background To determine the carrier frequency and pathogenic variants of common genetic disorders in the north Indian population by using next generation sequencing (NGS). Methods After pre-test counselling, 200 unrelated individuals (including 88 couples) were screened for pathogenic varia...