Saturation-scale functional evidence supports clinical variant interpretation in Lynch syndrome

BACKGROUND: Lynch syndrome (LS) is a cancer predisposition syndrome affecting more than 1 in every 300 individuals worldwide. Clinical genetic testing for LS can be life-saving but is complicated by the heavy burden of variants of uncertain significance (VUS), especially missense changes. RESULT: To...

Descripción completa

Detalles Bibliográficos
Autores principales: Scott, Anthony, Hernandez, Felicia, Chamberlin, Adam, Smith, Cathy, Karam, Rachid, Kitzman, Jacob O.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2022
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9773515/
https://www.ncbi.nlm.nih.gov/pubmed/36550560
http://dx.doi.org/10.1186/s13059-022-02839-z

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9773515/
https://www.ncbi.nlm.nih.gov/pubmed/36550560
http://dx.doi.org/10.1186/s13059-022-02839-z

Ejemplares similares