Haplotype estimation for biobank-scale data sets.

Jared O'ConnellKevin SharpNick ShrineLouise WainIan HallMartin D TobinJean-Francois ZaguryOlivier DelaneauJonathan Marchini

Published in: Nature genetics (2016)

The UK Biobank (UKB) has recently released genotypes on 152,328 individuals together with extensive phenotypic and lifestyle information. We present a new phasing method, SHAPEIT3, that can handle such biobank-scale data sets and results in switch error rates as low as ∼0.3%. The method exhibits O(NlogN) scaling with sample size N, enabling fast and accurate phasing of even larger cohorts.

Keyphrases

electronic health record
big data
metabolic syndrome
cardiovascular disease
physical activity
healthcare
weight loss
data analysis
health information
machine learning