Abstract: Example embodiments relate to identity-by-descent (IBD) relatedness based on focal and reference segments. An example method includes determining, by a services platform based on personal information of a focal individual, a focal string. The method also includes retrieving, by the services platform from a reference database, a reference string of a reference individual. Additionally, the method includes computationally identifying, by the services platform, IBD segments between the focal string and the reference string. Further, the method includes determining, by the services platform and based on the merged set of IBD segments, a degree of relatedness between the focal individual and the reference individual. In addition, the method includes providing, by the services platform, access to the degree of relatedness via a user interface.

Abstract: Example embodiments relate to identity-by-descent (IBD) relatedness based on focal and reference segments. An example method includes determining, by a services platform based on personal information of a focal individual, a focal string. The method also includes retrieving, by the services platform from a reference database, a reference string of a reference individual. Additionally, the method includes computationally identifying, by the services platform, IBD segments between the focal string and the reference string. Further, the method includes determining, by the services platform and based on the merged set of IBD segments, a degree of relatedness between the focal individual and the reference individual. In addition, the method includes providing, by the services platform, access to the degree of relatedness via a user interface.

Abstract: Example embodiments relate to identity-by-descent (IBD) relatedness based on focal and reference segments. An example method includes determining, by a services platform based on personal information of a focal individual, a focal string. The method also includes retrieving, by the services platform from a reference database, a reference string of a reference individual. Additionally, the method includes computationally identifying, by the services platform, IBD segments between the focal string and the reference string. Further, the method includes determining, by the services platform and based on the merged set of IBD segments, a degree of relatedness between the focal individual and the reference individual. In addition, the method includes providing, by the services platform, access to the degree of relatedness via a user interface.

Abstract: The disclosed embodiments concern methods, apparatus, systems, and computer program products for developing polygenic risk score (PRS) models with improved performance across different ethnicities and for different target phenotypes.

Abstract: The disclosed embodiments concern methods, apparatus, systems and computer program products for estimating IBD segments. Some implementations use a templated positional Burrows-Wheeler transform (PBWT) technique and a phase switch error heuristic to correct genotyping errors and phase switch errors to make fast and accurate phase aware IBD estimates. In some implementations a templated PBWT technique and a probabilistic hidden Markov model (HMM) are used to correct genotyping errors and phase switch errors.

Abstract: The disclosed embodiments concern methods, apparatus, systems and computer program products for estimating IBD segments. Some implementations use a templated positional Burrows-Wheeler transform (PBWT) technique and a phase switch error heuristic to correct genotyping errors and phase switch errors to make fast and accurate phase aware IBD estimates. In some implementations a templated PBWT technique and a probabilistic hidden Markov model (HMM) are used to correct genotyping errors and phase switch errors.