Author Correction: Searching thousands of genomes to classify somatic and novel structural variants using STIX
NATURE METHODS(2022)
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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