Abstract: System, method, and software of constructing a cohort of sequencing participants. In an embodiment, a system stores sequencing data in electronic format for a plurality of sequencing participants. The system correlates the sequencing data of the sequencing participants with electronic health record data of the sequencing participants received from one or more health care providers. The system provides a cohort graphical user interface to receive cohort criteria from a requestor via a communication network to define a cohort from a population of the sequencing participants, perform electronic data processing on the sequencing data and the electronic health record data for the population of the sequencing participants based on the cohort criteria to identify the cohort of the sequencing participants from the population, and provide the cohort graphical user interface to display cohort information for the cohort to the requestor via the communication network.

Abstract: Systems and methods are provided for analysis of genetic data. One embodiment is a system that includes a memory storing sequence data and trait data. The system also includes a controller that identifies qualifying variants within the sequence data. The controller generates a sliding window comprising a selection of sequential variants, wherein a number of the individuals in the population carrying a qualifying variant at the sliding window is within a predetermined range, and iteratively: performs a statistical analysis that indicates whether qualifying variants at genomic coordinates within a region occupied by the sliding window are correlated with the trait, and moves the sliding window across at least one variant along a chromosomal direction, while adjusting a number of variants encompassed by the sliding window to maintain a number of the individuals in the population carrying a qualifying variant at the sliding window within the predetermined range.