StrVCTVRE: A supervised learning method to predict the pathogenicity of human genome structural variants

Whole-genome sequencing resolves many clinical cases where standard diagnostic methods have failed. However, at least half of these cases remain unresolved after whole-genome sequencing. Structural variants (SVs; genomic variants larger than 50 base pairs) of uncertain significance are the genetic c...

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Detalles Bibliográficos
Autores principales: Sharo, Andrew G., Hu, Zhiqiang, Sunyaev, Shamil R., Brenner, Steven E.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2022
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8874149/
https://www.ncbi.nlm.nih.gov/pubmed/35032432
http://dx.doi.org/10.1016/j.ajhg.2021.12.007

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8874149/
https://www.ncbi.nlm.nih.gov/pubmed/35032432
http://dx.doi.org/10.1016/j.ajhg.2021.12.007

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