Population specific reference panels are crucial for the genetic analyses of Native Hawai’ians: an example of the CREBRF locus
Meng Hsuan Lin, Christian Caberto, Peggy C. Wan, Yuqing Li, Annette Lum‐Jones, Maarit Tiirikainen, Loreall Pooler, Brooke Naomi Nakamura, Xin Sheng, Jacqueline Porcel, Unhee Lim, Veronica Wendy Setiawan, Loı̈c Le Marchand, Lynne Ross Wilkens, Christopher A. Haiman, , Charleston W. K. Chiang
The paper shows that lack of Polynesian representation in genetic reference panels hinders discovery of population-specific variants, but accurate imputation is possible with a small number of Polynesian references.
bioRxiv · Oct 1, 2019 · PreprintGenetics