Clinical validation of genomic functional screen data: Analysis of observed BRCA1 variants in an unselected population cohort

Functional assessment of genomic variants provides a promising approach to systematically examine the potential pathogenicity of variants independent of associated clinical data. However, making such conclusions requires validation with appropriate clinical findings. To this end, here, we use varian...

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Detalles Bibliográficos
Autores principales: Schiabor Barrett, Kelly M., Masnick, Max, Hatchell, Kathryn E., Savatt, Juliann M., Banet, Natalie, Buchanan, Adam, Willard, Huntington F.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2022
Materias:
Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8804171/
https://www.ncbi.nlm.nih.gov/pubmed/35128484
http://dx.doi.org/10.1016/j.xhgg.2022.100086

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8804171/
https://www.ncbi.nlm.nih.gov/pubmed/35128484
http://dx.doi.org/10.1016/j.xhgg.2022.100086

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