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Half of germline pathogenic and likely pathogenic variants found on panel tests do not fulfil NHS testing criteria

Genetic testing for cancer predisposition has been curtailed by the cost of sequencing, and testing has been restricted by eligibility criteria. As the cost of sequencing decreases, the question of expanding multi-gene cancer panels to a broader population arises. We evaluated how many additional ac...

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Detalles Bibliográficos
Autores principales: Andoni, Tala, Wiggins, Jennifer, Robinson, Rachel, Charlton, Ruth, Sandberg, Michael, Eeles, Rosalind
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8861039/
https://www.ncbi.nlm.nih.gov/pubmed/35190596
http://dx.doi.org/10.1038/s41598-022-06376-4