Invention
Summary
Accurate estimation of
recent shared ancestry is important for genetics, evolution, medicine,
conservation biology, and forensics. University of Utah investigators have
developed a maximum-likelihood method for the estimation of recent shared
ancestry (ERSA) from the number and lengths of identical by descent (IBD)
chromosomal segments derived from high-density SNP or whole-genome sequence
data. ERSA accurately
estimates the degree of relationship for up to eighth-degree relatives (e.g.
third cousins once removed), and detects relationships as distant as
twelfth-degree relatives (e.g. fifth cousins once removed). ERSA greatly
expands the range of relationships that can be estimated from genetic
data
Features &
Benefits
ERSA is accurate in
determination of relatedness within one degree of relationship for 97% of first-
through fifth-degree relatives and 80% of sixth- and seventh-degree relatives.
Established methods only estimate kinship accurately for first- through
third-degree relatives.
In analysis of large
pedigrees, ERSA can verify distant relationships without genotyping intervening
family members, sharply reducing sample collection and genotyping
requirements.
Applications/Market
Opportunities
Ancestry/genealogy:
- >100,000 genetic ancestry tests performed annually.
- >$12,000,000 spent on genetic ancestry testing.
- Expanding market for those desiring to identify more distant
relatives.
Biomedical/Clinical/Pharmaceutical:
- Pedigrees: checking, merging and
extending pedigrees.
- Removal of related individuals for case-control association studies and
population-based genetic analysis.
- Gene variant discovery and mapping disease-susceptibility loci.
Forensics:
- Identification of mass disaster/ homicide victims.
- >$65,000,000 spent annually in US alone.
- International
need for mass disaster identification.
Intellectual
Property: A
patent application is pending. A software package for application of this
methodology has been developed and is also available for
licensing.
