Searching thousands of genomes to classify somatic and novel structural variants using STIX.
Where this comes from
- Record sourced from PubMed, PMID 35396485.
- Also identified by DOI 10.1038/s41592-022-01423-4 and PMC identifier 9007735.
- Licence recorded as CC BY.
- The licence permits redistribution, so the abstract is shown in full and the full text is available from the publisher.
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.
Medical subject headings
- Genome
- Genomic Structural Variation
- Neoplasms