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Article

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

BMC bioinformatics - 20 Apr 2021

Chao Jesse T, Roskelley Calvin D, Loewen Christopher J R

Abstract excerpt

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 lifetime. Unfortunately, as the rate and coverage of genetic testing has accelerated, our ability to assess the...

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Identifiers

PMID: 33879063
DOI: 10.1186/s12859-021-04117-4
PMCID: PMC8056608

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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