Author Correction: Searching thousands of genomes to classify somatic and novel structural variants using STIX

NATURE METHODS(2022)

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摘要
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.
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关键词
Genome informatics,Genomics,Mutation,Software,Life Sciences,general,Biological Techniques,Biological Microscopy,Biomedical Engineering/Biotechnology,Bioinformatics,Proteomics
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