Characterization of Germline variants

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

automatic update Clinvar db for ANNOVAR

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

ClinVar Submission API Made Easy

UPWARD: Uniting People Working Against Rare Diseases

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

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

Identification of cancer-causing variants

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

Data repository for NeurIPS 2022 LMRL workshop paper.

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.

neural networks to score PubMed search results for similarity to evidence abstracts from ClinVar or CIViC

Flask-based webapp and API used to query and generate tabular reports of data relating to clinically-observed genetic variants

Implementation of the data type ClinVar

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…

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

Annoate a .vcf file with publicly-available data

Cross-reference 23andMe raw variant file with ClinVar