Article
Population-specific reference panels are crucial for genetic analyses: an example of the CREBRF locus in Native Hawaiians.
Human molecular genetics - 3 Aug 2020
Lin Meng, Caberto Christian, Wan Peggy, Li Yuqing, Lum-Jones Annette, Tiirikainen Maarit, Pooler Loreall, Nakamura Brooke, Sheng Xin, Porcel Jacqueline, Lim Unhee, Setiawan Veronica Wendy, Le Marchand Loïc, Wilkens Lynne R, Haiman Christopher A, Cheng Iona, Chiang Charleston W K
Abstract excerpt
Statistical imputation applied to genome-wide array data is the most cost-effective approach to complete the catalog of genetic variation in a study population. However, imputed genotypes in underrepresented populations incur greater inaccuracies due to ascertainment bias and a lack of representation among reference individuals, further contributing to the obstacles to study these populations. Here we examined...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.