Characterization of Germline variants

An Open Source Web Application for Genetic Data (SNPs) Data Crawling

Variant Agents: Multi-Agent Genomic Analysis

ClinVar Submission API Made Easy

PyGeneBe: A Python client seamlessly integrating with the GeneBe platform, offering efficient annotation of genetic variants through its API, while supporting pandas, VCF file formats, and HGVS parsing

automatic update Clinvar db for ANNOVAR

UPWARD: Uniting People Working Against Rare Diseases

An AI-driven genomic intelligence system delivering structured ClinVar interpretation and high-precision exon, intron, and gene queries using the Model Context Protocol (MCP).

Short Linear Motif (SLiM) Analysis in the context of human diseases

A bioinformatics pipeline to identify the best available PDB structures for all available variants for specified genes of interest

R script to 1) Extract missense variants that had been observed in "clinical testing" (as opposed to "literature only") in ClinVar. 2) Calculating movability and reappearance parameters using the aggregated and capped Invitae variant counts. 3) Apply the movability and reappearance parameters to ClinVar genes, calculating their movability- and r…

Identification of cancer-causing variants

Machine Learning-based Prediction of Pathogenicity for Protein Variants in ClinVar Database

Easy to use web interface for biologists to look for genetic variants and understand their deleteriousness using DITTO scores.

Data repository for NeurIPS 2022 LMRL workshop paper.

Cross-reference 23andMe raw variant file with ClinVar

ChemoProteomic-Detected Amino Acids (CpDAAs) to missense deleteriousness predictions and ClinVar pathogenic mutations

"NIHDataFetcher" is a GitHub repository with scripts for accessing and fetching data from various NIH databases like GEO and PubMed. It provides code examples to retrieve GEO datasets, search PubMed, and load ClinVar data. Ideal for researchers and data scientists working with biomedical information.

To predict cryptic cleavage sites in proteins with non-canonical signal peptides

Extending WES variant calling with ML to intelligently prioritise VUS for rare disease diagnostics. ROC-AUC: 0.79 | 439K high-risk variants flagged.