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A Method to Integrate Population and Familial Haplotype Phasing into Estimates of Genome-Wide Genetic or Gene Product Risk


Stanford Reference:

11-024


Abstract


Stanford researchers have developed a method for estimating the risk for disease on a genome-wide scale while incorporating population and familial haplotype phasing. Unlike current methods, this technology assigns the parental origin of genetic variants in interpreting the genome, improving the overall risk assessment of individual genomes. The assessment of compound heterozygous and multigenic disease risk, integration of sex-specific inheritance and integration of genetic background in areas of high recombination are all wholly reliant on phased haplotype data. This novel long-range haplotype phasing is based upon several databases, including family pedigree data, inheritance state determination, and population linkage disequilibrium data. The use of this technology not only improves risk prediction for personal genomes but also dramatically enhances the sensitivity of whole genome sequencing of related individuals for the identification of disease gene loci.


Applications


  • Mapping of risk allele flow through extended pedigrees
  • Performance of genotype-based determination of immunophenotypes such as HLA type using whole genome sequencing
  • Integration of parent-of-origin information into risk prediction pipelines for interpretation of personal genomes from families
  • Identification of multigenic and compound heterozygous contribution to inherited disease syndromes

Advantages


  • Provides rapid long-range haplotype phased data
  • Incorporates family pedigree information into pipelines for genome annotation
  • Uses multiple data-sources rapid long-range haplotype phasing, with family pedigree information alone informing the vast majority of phased position

Innovators & Portfolio



Patent Status



Date Released

 10/24/2017
 

Licensing Contact


Imelda Oropeza, Licensing Associate
650-725-9039 (Business)

Online Non-Disclosure Agreement (NDA)





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Related Keywords


software: bioinformatics   genome-wide association studies (GWAS)   genomics: bioinformatic   diagnostic: detection   diagnostic: marker   genetic screening   genomic diagnostics   genomics: pharmacogenomics   healthcare: biochip   healthcare: diagnostic tool   healthcare: informatics   screening: detection   screening: target   personalized medicine   informatics: archiving   information management   
 

   

  

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S11-024 A Method to Integrate Population and Familial Haplotype Phasing into Estimates of Genome-Wide Genetic or Gene Product Risk