Characterization of Germline variants

• UpdatedMar 15, 2022
• Python

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

• UpdatedDec 8, 2022
• JavaScript

ClinVar Submission API Made Easy

• UpdatedMar 17, 2025
• Python

UPWARD: Uniting People Working Against Rare Diseases

• UpdatedAug 6, 2019
• PHP

automatic update Clinvar db for ANNOVAR

• UpdatedMar 18, 2025

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

• UpdatedNov 2, 2024
• Python

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

• UpdatedOct 3, 2023
• Python

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…

• UpdatedOct 22, 2020
• R

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

• UpdatedNov 1, 2021
• R

Identification of cancer-causing variants

• UpdatedApr 19, 2024
• Python

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

• UpdatedDec 7, 2022

Data repository for NeurIPS 2022 LMRL workshop paper.

• UpdatedDec 7, 2022
• Jupyter Notebook

"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.

• UpdatedJun 19, 2023
• Python

Cross-reference 23andMe raw variant file with ClinVar

• UpdatedDec 30, 2017
• Perl

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

• UpdatedJul 1, 2022
• Python

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

• UpdatedOct 28, 2024
• Python

Annoate a .vcf file with publicly-available data

• UpdatedJul 16, 2016
• Python

OpenDL is a non-profit Deep Learning research organisation discovering and accelerating artificial general intelligence studies to achieve competitive edge in the field of Legal, Health and Agriculture

• UpdatedOct 23, 2018
• Jupyter Notebook

Reproduce bioinformatics analysis for the paper Meyer, K. et al., Cell, 2018.

• UpdatedNov 21, 2018

The Amissense Tool analyzes and visualizes AlphaMissense pathogenicity scores, integrating AlphaFold structures and ClinVar data. It offers automated pipelines, visualizations, and versatile command-line utilities.

• UpdatedOct 6, 2024
• Python