Systems and Methods for Determining Copy Number Variation

摘要

A method of identifying a copy number variations reads includes mapping reads to a reference genome, computing coverage for a plurality of tiles, and normalizing the coverage for a tile based on a coverage mode across the plurality of tiles. The method further includes determining a score for the plurality of tiles being in a plurality of ploidy states, determining a maximum score path across the tiles and through the ploidy states, and providing a copy number determination based on the maximum score path.

主权项

1. A method of identifying a copy number variations reads, comprising:
mapping reads to a reference genome; computing coverage for a plurality of tiles; normalizing the coverage for a tile based on a coverage mode across the plurality of tiles; determining a score for the plurality of tiles being in a plurality of ploidy states; determining a maximum score path across the tiles and through the ploidy states; and providing a copy number determination based on the maximum likelihood path.