ANCESTRY INFERENCE BASED ON CONVOLUTIONAL NEURAL NETWORK

摘要

A system divides an input genotype dataset into a plurality of windows, each including a sequence of SNPs and determines a pair of phased haplotype datasets from the plurality of windows of genotype datasets. For at least one window, a plurality of emission probabilities are determined using one or more CNN models that take phased haplotypes as input and generates emission probabilities as output, where the emission probability corresponds to a probability of observing the pair of phased haplotype datasets within the window given a pair of ethnicity labels. The system then generates a directed acyclic graph that comprises a plurality of node groups and a plurality of edges, wherein the node group corresponding to the particular window comprises a plurality of nodes and each node is associated with one of the emission probabilities. Based on the directed acyclic graph, the system generates information on ethnic origin of the individual.