ROBUST VARIANT IDENTIFICATION AND VALIDATION

摘要

Anon transitorystorage medium storesan assembled genetic sequence comprising aligned sequencing reads. An electronic processing device is configured to performoperations 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 propertyfor 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 nonrandom selection criterion.