Autosomal DNA Analysis for Close Kinship Detection
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Solution Overview
Problem
Existing genetic ancestry testing techniques are limited in identifying closer relationships and cannot easily detect non-patrilineal or matrilineal relationships, and there is a need for improved methods to infer ancestry information.
Innovation Solution
A system and process for finding relatives by identifying Identical by Descent (IBD) regions in recombining DNA, using whole-genome sequencing or assaying a large number of DNA markers, and comparing them to determine shared genetic segments.
Engineering Contradictions & Design Principles
Engineering Contradiction Analysis
1Measurement precision
If traditional Y-DNA or mtDNA testing techniques are used, then ancestry information for distant relationships (10 generations or more) can be identified, but the ability to identify closer relationships and non-patrilineal/matrilineal relationships deteriorates
Solution Approach 1:
The patent applies universality by using autosomal DNA markers that can detect multiple types of relationships (patrilineal, matrilineal, and non-patrilineal/matrilineal) within a single testing framework. The system analyzes autosomal DNA from both maternal and paternal chromosomes, enabling it to identify various relationship types including siblings, cousins, and other relatives regardless of the specific lineage path, thus making the testing method versatile for detecting all kinds of familial relationships.
2Adaptability or versatility
If whole-genome sequencing or large number of DNA markers are assayed to identify closer relationships, then the ability to detect closer and non-patrilineal/matrilineal relationships improves, but the complexity of the testing system increases
Solution Approach 1:
The patent applies segmentation by dividing the genome analysis into specific manageable segments - focusing on autosomal DNA regions rather than analyzing the entire genome. The system identifies and compares specific chromosomal segments from maternal and paternal chromosomes, examining particular DNA markers at defined locations. This segmented approach allows comprehensive relationship detection while maintaining manageable testing complexity by concentrating on informative regions rather than processing all genomic data.
3Device complexity
If Y-DNA or mtDNA testing is used for distant ancestry identification, then the testing method remains simple and cost-effective, but the precision for identifying closer relationships deteriorates
Solution Approach 1:
The patent applies parameter changes by transitioning from analyzing single-locus markers (Y-DNA or mtDNA) to analyzing multiple autosomal DNA markers across different chromosomal locations. The system varies the parameters of the testing approach by examining allele patterns at multiple loci, calculating likelihood ratios based on population frequencies of these markers, and using statistical methods to determine relationships. This parameter change from simple to complex analysis enables precise identification of closer relationships while maintaining a systematic testing framework.
Data Source
AI summary
Inferring a characteristic of an individual is disclosed. An indication that a first user and a second user have at least one shared chromosomal segment is received. Information about the second user is obtained. A characteristic of the first user is inferred based at least in part on the information about the second user.