- Construction of and alignment to an ethnicity-specific major allele reference sequence yielded improved alignment and more accurate genotyping, especially at disease-associated loci.
- Mendelian inheritance state analysis in the family structure enabled identification and removal of >90% of variants arising from sequencing errors.
- Per-trio phasing, inheritance state of adjacent variants, and population-level linkage disequilibrium data were integrated to provide long-range phased haplotypes.
- By fine-mapping recombination events to sub-kilobase resolution, the authors were able to perform sequence-based human lymphocyte antigen (HLA) typing.
- A curated database of genotype-phenotype correlations made it possible to construct comprehensive genetic risk profiles, including multigenic risk of inherited thrombophilia, common disease susceptibility, and pharmacogenomics.
Tuesday, 20 September 2011
Stanford-Led Team Demonstrates Utility of Ethnicity-Specific Reference for Interpreting Genome Data
excerpted from Genomeweb
Posted by Kevin at 01:19