Pathogenic variants carrier screening in New Brunswick: Acadians reveal high carrier frequency for multiple genetic disorders

• Main Authors: Philippe Pierre Robichaud (Author), Eric P. Allain (Author), Sarah Belbraouet (Author), Claude Bhérer (Author), Jean Mamelona (Author), Jason Harquail (Author), Stéphanie Crapoulet (Author), Nicolas Crapoulet (Author), Mathieu Bélanger (Author), Mouna Ben Amor (Author)
• Format: Book
• Published: BMC, 2022-04-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

Abstract Background Founder populations that have recently undergone important genetic bottlenecks such as French-Canadians and Ashkenazi Jews can harbor some pathogenic variants at a higher carrier rate than the general population, putting them at a higher risk for certain genetic diseases. In thes...