An optimized protocol for evaluating pathogenicity of VHL germline variants in patients suspected with von Hippel-Lindau syndrome: Using somatic genome to inform the role of germline variants

The interpretation of hereditary genetic sequencing variants is often limited due to the absence of functional data and other key evidence to assess the role of variants in disease. Cancer genetics is unique, as two sets of genomic information are often available from a cancer patient: somatic and g...

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Detalles Bibliográficos
Autores principales: Koeller, Diane R., Manning, Danielle K., Schwartz, Alison, Chittenden, Anu, Hayes, Connor P., Abraamyan, Feruza, Rana, Huma Q., Lindeman, Neal I., Garber, Judy E., Ghazani, Arezou A.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2022
Materias:
Protocol Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9237939/
https://www.ncbi.nlm.nih.gov/pubmed/35774415
http://dx.doi.org/10.1016/j.mex.2022.101761

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9237939/
https://www.ncbi.nlm.nih.gov/pubmed/35774415
http://dx.doi.org/10.1016/j.mex.2022.101761

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