Characterization of Germline variants

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

ClinVar Submission API Made Easy

automatic update Clinvar db for ANNOVAR

UPWARD: Uniting People Working Against Rare Diseases

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

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…

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

Identification of cancer-causing variants

Data repository for NeurIPS 2022 LMRL workshop paper.

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

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

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.

Annoate a .vcf file with publicly-available data

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

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

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