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Annotation of structural variants with reported allele frequencies and related metrics from multiple datasets using SVAFotate
BACKGROUND: Identification of deleterious genetic variants using DNA sequencing data relies on increasingly detailed filtering strategies to isolate the small subset of variants that are more likely to underlie a disease phenotype. Datasets reflecting population allele frequencies of different types...
| Autores principales: | , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
BioMed Central
2022
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9670370/ https://www.ncbi.nlm.nih.gov/pubmed/36384437 http://dx.doi.org/10.1186/s12859-022-05008-y |