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...

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Detalles Bibliográficos
Autores principales: Chowdhury, Murad, Pedersen, Brent S., Sedlazeck, Fritz J., Quinlan, Aaron R., Layer, Ryan M.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group US 2022
Materias:
Brief Communication
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

Internet

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

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