METHOD AND APPARATUS FOR CALLING SINGLE-NUCLEOTIDE VARIATIONS AND OTHER VARIATIONS

摘要

Base calls for a target sequence may be identified relative to a reference sequence by using values from sequencing reads at locations satisfying a high-confidence condition to identify base calls at a given location not satisfying the high-confidence condition. The high-confidence condition may relate to the level of coverage by the sequencing reads at a location of the reference sequence. The quality of measurements of the sequencing reads may be incorporated into the base-call process.