This script implements a bioinformatics pipeline for analyzing genetic variants and their association with disease risk. It combines population genetics principles with machine learning to identify disease-associated variants.

bioinformatics computational-biology genomics health-tech machine-learning predictive-modeling pytorch
1 Open Issue Need Help Last updated: Aug 24, 2025

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AI Summary: This GitHub issue addresses the need to implement several placeholder core functions in `genetic_variant_analysis/core/main.py` to enable the genetic variant analysis pipeline to run end-to-end. The required tasks include implementing `_load_config`, adding an API call to ClinVar within `_check_clinvar_annotation`, and developing the logic for `enhance_feature_selection`.

Complexity: 4/5
bug enhancement good first issue

This script implements a bioinformatics pipeline for analyzing genetic variants and their association with disease risk. It combines population genetics principles with machine learning to identify disease-associated variants.

Python
#bioinformatics#computational-biology#genomics#health-tech#machine-learning#predictive-modeling#pytorch