A cost-effective sequencing method for genetic studies combining high-depth whole exome and low-depth whole genome

Abstract Whole genome sequencing (WGS) at high-depth (30X) allows the accurate discovery of variants in the coding and non-coding DNA regions and helps elucidate the genetic underpinnings of human health and diseases. Yet, due to the prohibitive cost of high-depth WGS, most large-scale genetic assoc...

وصف كامل

التفاصيل البيبلوغرافية
المؤلفون الرئيسيون: Claude Bhérer, Robert Eveleigh, Katerina Trajanoska, Janick St-Cyr, Antoine Paccard, Praveen Nadukkalam Ravindran, Elizabeth Caron, Nimara Bader Asbah, Peyton McClelland, Clare Wei, Iris Baumgartner, Marc Schindewolf, Yvonne Döring, Danielle Perley, François Lefebvre, Pierre Lepage, Mathieu Bourgey, Guillaume Bourque, Jiannis Ragoussis, Vincent Mooser, Daniel Taliun
التنسيق: مقال
اللغة:English
منشور في: Nature Portfolio 2024-02-01
سلاسل:npj Genomic Medicine
الوصول للمادة أونلاين:https://doi.org/10.1038/s41525-024-00390-3