ParseSNP
github.com/britrobin/parsesnpA small <720Kb C++ windows utility. That allows you to load Ancestry, 23andMe, FTDNA, or Genes for Good RAW DNA files search them, merge them. covert them to Ancestry format. But also create files from peer reviewed publications to compare with you loaded data to give your genetic disposition for the condition you have entered the data for an statistical risk if OR values are included. Included with the program are example files for Type 2 Diabetes risk factors. (As I have type 2 Diabetes so I could test the results).
Sourced from
- bio.tools — parsesnp21-26
- GitHub — github.com/britrobin/parsesnp
Related resources
Deep learning-based variant caller
A Go library and command line utility for engineering organisms.
Using single-cell RNA-Seq expression to visualize CNV in cells.
Efficient foundation model and benchmark for multi-species genome understanding with context-aware nucleotide representations, improving upon DNABERT for diverse genomic task transfer learning (UIUC MAGICS Lab, 484+ stars)
Probabilistic framework for inferring cell fate decisions and trajectory dynamics from multi-view single-cell data using Markov chains and machine learning, integrating RNA velocity, pseudotime, and metabolic labeling to predict differentiation paths and terminal states (scverse/Theis Lab, 449+ stars, BSD 3-Clause)
First architecture deeply integrating a DNA foundation model with an LLM for multimodal biological reasoning, achieving 98% accuracy on KEGG disease pathway prediction and 15%+ average gains on variant effect prediction with interpretable step-by-step reasoning traces (bowang-lab, 390+ stars)