Annoate a .vcf file with publicly-available data
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Updated
Jul 16, 2016 - Python
Annoate a .vcf file with publicly-available data
Flask-based webapp and API used to query and generate tabular reports of data relating to clinically-observed genetic variants
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.
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…
neural networks to score PubMed search results for similarity to evidence abstracts from ClinVar or CIViC
Short Linear Motif (SLiM) Analysis in the context of human diseases
Characterization of Germline variants
ChemoProteomic-Detected Amino Acids (CpDAAs) to missense deleteriousness predictions and ClinVar pathogenic mutations
Data repository for NeurIPS 2022 LMRL workshop paper.
To predict cryptic cleavage sites in proteins with non-canonical signal peptides
An Open Source Web Application for Genetic Data (SNPs) Data Crawling
"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.
An R package for interpreting genetic variants according to the ACMG guidelines.
A bioinformatics pipeline to identify the best available PDB structures for all available variants for specified genes of interest
Web application to analyse ClinVar marker frequencies in populations over time. R-shiny application for population genetics analysis.
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