Identifying Matrilineal and Patrilineal Relatives via IBD Segments
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Solution Overview
Problem
Existing genetic ancestry testing techniques are ineffective for identifying close patrilineal or matrilineal relatives due to the shuffling of autosomal and X chromosome DNA, making it difficult to ascertain these relationships based solely on genetic information.
Innovation Solution
A system that combines user-specified genealogical information with genetic data, such as SNPs, STRs, and CNVs, to identify relatives by locating 'Identical by Descent' (IBD) regions through genome sequencing or marker comparison, allowing for the differentiation and presentation of matrilineal and patrilineal relatives.
Engineering Contradictions & Design Principles
Engineering Contradiction Analysis
1Measurement precision
If Y-DNA or mtDNA testing is used to identify relatives, then distant ancestry (10+ generations) can be identified, but close relationships cannot be effectively identified
Solution Approach 1:
The patent segments the autosomal genome into specific chromosomal regions (IBD segments) to identify shared ancestry. By analyzing specific segments rather than the entire genome, the system can detect close relationships that would be obscured by recombination in traditional whole-genome approaches.
Solution Approach 2:
The patent changes the parameter of DNA analysis from traditional Y-DNA/mtDNA to autosomal DNA with focus on IBD segments. This parameter change enables the system to detect close relationships by measuring the length and number of shared segments, which are characteristic of recent common ancestry.
2Reliability
If genetic information alone is used to determine relative relationships, then objective genetic data is obtained, but it becomes difficult to ascertain whether a relative is patrilineal or matrilineal
Solution Approach 1:
The patent introduces genealogical records as an intermediary to bridge genetic data with lineage information. By combining genetic IBD segment data with recorded family history, the system can determine both the presence of a relationship and its directional nature (patrilineal or matrilineal), resolving the information loss problem.
Solution Approach 2:
The patent makes the analysis system multi-functional by enabling it to perform both relationship detection and lineage direction determination through a single integrated approach that combines genetic and genealogical data, eliminating the need for separate analysis methods.
Data Source
AI summary
Determining relative relationships among a plurality of individuals, comprising: accessing user-specified genealogical information of at least some of the plurality of individuals and genetic information of recombinable deoxyribonucleic acids (DNAs) of at least some of the plurality of individuals; determining, using one or more computer processors and among the plurality of individuals, one or more related individuals who are relatives of a target individual, and information pertaining to the one or more related individuals, and presenting information pertaining to at least one of the one or more related individuals, including to present an indication of whether the at least one of the one or more related individuals is a matrilineal relative or a patrilineal relative of the target individual.