Ancestral human genomes
AssigneeAncestry.com DNA, LLC
InventorsJulie M. Granka, Keith D. Noto
Life of this patent
Estimating the term…
Abstract
Described are computational methods to reconstruct the chromosomes (and genomes) of ancestors given genetic data, IBD information, and full or partial pedigree information of some number of their descendants.
Claims20
A method for reconstructing at least one phased chromosomal haplotype of at least one genomic segment of an ancestral couple of interest, the method comprising
- receiving, by a computer, genetic data for a plurality of individuals;
- analyzing, by the computer, the genetic data to identify a genomic DNA segment that is identical by descent (IBD) among pairs of the individuals, the IBD genomic DNA segment identified by chromosome number and start and end coordinates, thereby identifying a set of pairs of individuals each pair sharing at least one IBD genomic DNA segment;
- receiving, by the computer, pedigree data for the set;
- analyzing, by the computer, the pedigree data to identify a most recent common ancestor (MRCA) of at least one of the pairs of individuals in the set, the MRCA belonging to the ancestral couple;
- for one of the IBD genomic DNA segments shared by one of the pairs of individuals, comparing, by the computer, phased haplotypes of the pair of individuals to determine an inferred IBD haplotype;
- generating a plurality of inferred IBD haplotypes based on other phased haplotypes of other pairs of individuals in the set;
- and
- stitching together the inferred IBD haplotypes, by the computer, to generate stitched ancestral haplotypes reconstructing the at least one phased chromosomal haplotype of at least one genomic segment of the ancestral couple of interest.
A non-transitory computer-readable medium comprising computer-executable instructions for reconstructing at least one phase chromosomal haplotype of at least one genomic segment of an ancestral couple of interest, the instructions, when executed by one or more processors, cause the one or more processors to:
- receive, by a computer, genetic data for a plurality of individuals;
- analyzing, by the computer, the genetic data to identify a genomic DNA segment that is identical by descent (IBD) among pairs of the individuals, the IBD genomic DNA segment identified by chromosome number and start and end coordinates, thereby identifying a set of pairs of individuals each pair sharing at least one IBD genomic DNA segment;
- receive, by the computer, pedigree data for the set;
- analyze, by the computer, the pedigree data to identify a most recent common ancestor (MRCA) of at least one of the pairs of individuals in the set, the MRCA belonging to the ancestral couple;
- for one of the IBD genomic DNA segments shared by one of the pairs of individuals, comparing, by the computer, phased haplotypes of the pair of individuals to determine an inferred IBD haplotype;
- generate a plurality of inferred IBD haplotypes based on other phased haplotypes of other pairs of individuals in the set;
- and
- stitch together the inferred IBD haplotypes, by the computer, to generate stitched ancestral haplotypes reconstructing the at least one phased chromosomal haplotype of at least one genomic segment of the ancestral couple of interest.
Dependencies are inferred from the claim text.