公开(公告)号：US20210327538A1

公开(公告)日：2021-10-21

申请号：US17252205

申请日：2019-07-16

Applicant: Natera, Inc.

Inventor： Agust EGILSSON ,  George GEMELOS ,  Styrmir SIGURJONSSON

IPC: G16B20/20 ,  C12Q1/6874 ,  G16B30/00 ,  C12Q1/6883

Abstract: A method of calling a ploidy state using a neural network includes determining, for a training sample, genetic sequencing data or genetic array data for a plurality of genetic positions, determining respective true ploidy state values for a plurality of genetic segments, each genetic segment respectively comprising at least some of the plurality of genetic positions, based on the genetic sequencing data or genetic array data, and determining a neural network comprising one or more layers for calling respective ploidy state values, the neural network defined at least in part by a plurality of weights. The method further includes iteratively modifying the weights using specific processes. The method further includes calling, for a test sample, a ploidy state for a target genetic region by propagating genetic sequencing data for the test sample or genetic array data for the test sample through the modified neural network.