Searching thousands of genomes to classify somatic and novel structural variants using STIX.

ABSTRACT: Structural variants are associated with cancers and developmental disorders, but challenges with estimating population frequency remain a barrier to prioritizing mutations over inherited variants. In particular, variability in variant calling heuristics and filtering limits the use of current structural variant catalogs. We present STIX, a method that, instead of relying on variant calls, indexes and searches the raw alignments from thousands of samples to enable more comprehensive allele frequency estimation.

SUBMITTER: Chowdhury M 

PROVIDER: S-EPMC9007735 | biostudies-literature | 2022 Apr

REPOSITORIES: biostudies-literature