MAPS

MAPS applies high-content microscopy and deep learning to assess functional effects of genetic variants by detecting changes in protein subcellular localization.


Key Features:

  • High-Content Microscopy Integration: Analyzes high-content microscopy (HCM) images to detect alterations in protein subcellular localization as indicators of loss of function.
  • Deep Learning Analysis: Uses deep learning algorithms to analyze large-scale HCM imaging datasets.
  • Cloud-Based Deep Learning: Utilizes cloud-based deep learning services for model training and deployment.
  • Variant Functionalization: Demonstrated application to functionalize PTEN missense variants by assessing their impact on protein localization.

Scientific Applications:

  • Variant Classification in Cancer Genetics: Functionalizes and aids classification of variants of uncertain significance in hereditary and somatic cancers by evaluating localization changes.
  • Tumor Suppressor Assessment: Evaluates tumor suppressor genes such as PTEN where subcellular localization informs loss-of-function status.

Methodology:

Analysis of high-content microscopy images using deep learning algorithms with model training and deployment performed via cloud-based deep learning services.

Topics

Details

License:
MIT
Tool Type:
command-line tool
Programming Languages:
Python
Added:
10/9/2021
Last Updated:
10/9/2021

Operations

Publications

Chao JT, Roskelley CD, Loewen CJR. MAPS: machine-assisted phenotype scoring enables rapid functional assessment of genetic variants by high-content microscopy. BMC Bioinformatics. 2021;22(1). doi:10.1186/s12859-021-04117-4. PMID:33879063. PMCID:PMC8056608.

PMID: 33879063
PMCID: PMC8056608
Funding: - Canadian Institute of Health Research: PJT-152967

Links