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Searching thousands of genomes to classify somatic and novel structural variants using STIX
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 struct...
| Autores principales: | , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Nature Publishing Group US
2022
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9007735/ https://www.ncbi.nlm.nih.gov/pubmed/35396485 http://dx.doi.org/10.1038/s41592-022-01423-4 |