SoftGenetics has released a version of its NextGene software that includes a new database function to narrow down variants in familial or other comparative sequencing studies. The filtering capability was developed in collaboration with researchers from the Undiagnosed Diseases Program at the National Institutes of Health.
In an application note, the company describes how it used NextGene in a sequencing study of six family members to narrow 278,875 variants down to 26 variants. After excluding dbSNP variants, the number was reduced to four. The software is compatible with Illumina, Roche 454, Life Technologies' SOLiD, and the Ion Torrent PGM platforms.