Evaluating Reference Databases for Imputation in Humans


Reference databases are an important factor affecting accuracy in genotype imputation. In the particular context of human genetics, using a reference panel of individuals different from the target indivduals leads to lower accuracy. I present the impact of this choice in a specific reference databse, the Genome Asia database, which has sequenced ~7k individuals from a variety of population groups in Asia, with a major focus on South Asia.

Bay Area Population Genomics Meeting
Berkeley, CA
Saurabh Belsare
Senior Scientist

Senior Scientist, Bioinformatics at Pacific Biosciences