Searching thousands of genomes to classify somatic and novel structural variants using STIX.
Nat Methods
; 19(4): 445-448, 2022 04.
Article
in En
| MEDLINE
| ID: mdl-35396485
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.
Full text:
1
Collection:
01-internacional
Database:
MEDLINE
Main subject:
Genome
/
Genomic Structural Variation
/
Neoplasms
Limits:
Humans
Language:
En
Journal:
Nat Methods
Year:
2022
Document type:
Article