Abstract
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.
Publication types
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Research Support, Non-U.S. Gov't
MeSH terms
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Algorithms*
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Biological Specimen Banks*
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Cohort Studies
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Computational Biology / methods*
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Datasets as Topic
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European Continental Ancestry Group
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Genetics, Population*
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Genome, Human
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Genomics
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Haplotypes / genetics*
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High-Throughput Nucleotide Sequencing / statistics & numerical data
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Humans
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Polymorphism, Single Nucleotide / genetics
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Sequence Analysis, DNA / methods
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United Kingdom