Haplotype frequency models are used to estimate the population frequency of a sequence of alleles at tightly-linked genetic loci. These models are a fundamental tool for genetic analysis because they enable analyses to use information from correlated, closely-spaced genetic variants. Haplotype frequency models are the technology underlying many important analyses, including genotype calling from low-coverage sequence data, imputation of ungenotyped markers, haplotype phasing, inference of population ancestry at a genetic locus, and detection of segments of identity-by-descent. This research will develop a more accurate and more computationally efficient haplotype frequency model, and it will develop faster, more accurate methods for haplotype phasing and genotype imputation.
The genetic variants carried by an individual can increase or decrease the individual's risk of heritable diseases such as cardiovascular disease and diabetes. This research will develop new methods and software that improve scientists' ability to identify genetic variants that increase or decrease risk of disease. These methods will contribute to the prevention, diagnosis, and treatment of heritable diseases in the United States and throughout the world.
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| Jarvik, Gail P; Browning, Brian L (2016) Consideration of Cosegregation in the Pathogenicity Classification of Genomic Variants. Am J Hum Genet 98:1077-1081 |
| Browning, Brian L; Browning, Sharon R (2016) Genotype Imputation with Millions of Reference Samples. Am J Hum Genet 98:116-26 |
