GENOMIC VARIANT RANKING SYSTEM FOR CLINICAL TRIAL MATCHING

摘要

A genetic sequencer (10) generates DNA reads (16) from a tissue sample of a current patient. The DNA reads are aligned (18) with a reference DNA sequence (20) to generate a DNA sequence (22) of the current patient. Variant calling (24) is performed to generate a list of genetic variants (26) contained in the DNA sequence of the current patient. Occurrences are determined of genetic variants in one or more reference databases (44) storing genetic variants of medical patients. It is determined whether genetic variants of the list of genetic variants are synonymous. Scores are assigned for genetic variants based at least on measures of correlation of the genetic variants with disease. A ranked list (32) of top-scoring genetic variants is generated based on the assigned scores, and the ranked list is displayed on a display (36).