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MAPS: machine-assisted phenotype scoring enables rapid functional assessment of genetic variants by high-content microscopy

BACKGROUND: Genetic testing is widely used in evaluating a patient’s predisposition to hereditary diseases. In the case of cancer, when a functionally impactful mutation (i.e. genetic variant) is identified in a disease-relevant gene, the patient is at elevated risk of developing a lesion in their l...

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Detalles Bibliográficos
Autores principales: Chao, Jesse T., Roskelley, Calvin D., Loewen, Christopher J. R.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8056608/
https://www.ncbi.nlm.nih.gov/pubmed/33879063
http://dx.doi.org/10.1186/s12859-021-04117-4