23andme, Inc.

Eric Durand

John Michael Macpherson

Chuong Do

Brian Thomas Naughton

Joanna Louise Mountain

Ancestry deconvolution includes obtaining unphased genotype data of an individual; phasing, using one or more processors, the unphased genotype data to generate phased haplotype data; using a learning machine to classify portions of the phased haplotype data as corresponding to specific ancestries respectively and generate initial classification results; and correcting errors in the initial classification results to generate modified classification results.

Scalable pipeline for local ancestry inference

Presenting ancestral origin information, comprising: receiving a request to display ancestry data of an individual; obtaining ancestry composition information of the individual, the ancestry composition information including information pertaining to a proportion of the individual's genotype data that is deemed to correspond to a specific ancestry; and presenting the ancestry composition information to be displayed.

Ancestry painting with local ancestry inference

Error correction in ancestry classification includes obtaining, from a classifier, initial ancestry classifications associated with portions of two phased haplotypes of a chromosome pair of an individual; performing error correction on an initial ancestry classification, including detecting a phasing error in the initial ancestry classifications; and outputting a corrected ancestry classification in which the phasing error is corrected.

Error correction in ancestry classification

Phasing unphased genotype data of an individual includes: obtaining the unphased genotype data of the individual; processing the unphased genotype data to determine phased haplotype data, the processing comprising performing out-of-sample population-based phasing on the unphased genotype data; wherein: performing out-of-sample population-based phasing includes performing statistical analysis using predetermined reference data that is based on genotype data of a reference population; and the genotype data of the reference population does not reference the genotype data of the individual.

Phasing of unphased genotype data

Performing trio-based phasing includes: obtaining a set of preliminary phased haplotype data of an individual; establishing a dynamic Bayesian network based at least in part on the set of preliminary phased haplotype data of the individual and phased haplotype data of at least one parent of the individual; and determining, based on the dynamic Bayesian network, a set of refined haplotype data of the individual.

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Sceaux, France

Eric Durand