ROBUST VARIANT IDENTIFICATION AND VALIDATION

摘要

A non-transitory storage medium stores an assembled genetic sequence comprising aligned sequencing reads. An electronic processing device is configured to perform operations including: identifying a possible variant in the assembled genetic sequence; computing value of at least one read property for reads of the assembled genetic sequence; and calling the possible variant conditional upon the computed values of the at least one read property for sequencing reads of the assembled genetic sequence that include the possible variant satisfying an acceptance criterion. The electronic processing device may be further configured to select at least one region of the assembled genetic sequence for validation based on a non random selection criterion.

主权项

1. A method comprising:
identifying a possible variant in an assembled genetic sequence comprising aligned sequencing reads; computing values of a plurality of read properties for sequencing reads of the assembled genetic sequence; and calling the possible variant conditional upon the computed values of the at least one read property for sequencing reads of the assembled genetic sequence that include the possible variant satisfying an acceptance criterion; wherein the possible variant is classified as accepted or rejected using a classifier operating on the computed values of the plurality of read properties for the reads that include the possible variant: and wherein the possible variant is called only if the possible variant is classified as accepted, wherein classifying is performed using support vector machine classification using F-score; wherein the identifying, computing, and calling are performed by an electronic data processing device.