Natera, Inc.
METHODS AND SYSTEMS FOR CALLING MUTATIONS

Last updated:

Abstract:

A method for calling a mutation includes determining, for each target base of a plurality of target bases, a respective value for a background error parameter based on training data. The method further includes determining a motif-specific error model including the background error parameter by performing processes that include: identifying a respective motif for each target base of the plurality of target bases, grouping the plurality of target bases into a plurality of groups, each group corresponding to a particular motif, and determining, for each group, a respective motif-specific parameter value for the background error parameter based on the determined values for the background error parameter for the target bases included in each group. The method further includes calling a mutation using the motif-specific error model and sequencing information for a biological sample.

Status:
Application
Type:

Utility

Filling date:

12 Jun 2019

Issue date:

19 Aug 2021