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...

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Detalles Bibliográficos
Autores principales: Nicholas, Thomas J., Cormier, Michael J., Quinlan, Aaron R.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2022
Materias:
Software
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

Internet

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

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