clinvar

There are 26 repositories under clinvar topic.

  • ding-lab/CharGer

    Characterization of Germline variants

    Language:Python98193737

  • glasgowm148/Phenotype

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

    Language:JavaScript18414

  • varfish-org/clinvar-this

    ClinVar Submission API Made Easy

    Language:Python105732

  • ryuzheng/clinvar_db_for_annovar

    automatic update Clinvar db for ANNOVAR

    7103

  • NCBI-Hackathons/UPWARD

    UPWARD: Uniting People Working Against Rare Diseases

    Language:PHP6701

  • pstawinski/pygenebe

    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

    Language:Python6340

  • Utilon/MutaPipe_Repo

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

    Language:Python5102

  • BIMSBbioinfo/slimR

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

    Language:R4802

  • rothlab/mave-gene-prioritization

    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 reappearance-weighted impact score (MARWIS), as well as their difficulty-adjusted impact score (DAIS). 4) Rank ClinVar genes.

    Language:R4300

  • Hansi-Thewarapperuma/Inherited_Risk_Detector

    Identification of cancer-causing variants

    Language:Python3100

  • AdamDS/23AndMeAndClinVar

    Cross-reference 23andMe raw variant file with ClinVar

    Language:Perl2200

  • cx0/llm-for-clinical-variants

    Data repository for NeurIPS 2022 LMRL workshop paper.

    Language:Jupyter Notebook2000

  • kevinmastascusa/NIHDataFetcher

    "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.

    Language:Python2100

  • Mfpfox/MAPPING

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

    Language:Python20131

  • russelllab/spc

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

    2100
  • DITTO-UI

    uab-cgds-worthey/DITTO-UI

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

    Language:Python2280

  • arvkevi/clinAnno

    Annoate a .vcf file with publicly-available data

    Language:Python131

  • Mchockalingam/OpenDL

    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

    Language:Jupyter Notebook1201

  • autovivification/variant_search

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

    Language:Python0000

  • bence42/genie

    Automate ClinVar lookup of sequencing results from TermoFischer Ion Torrent machines.

    Language:Python0200

  • Beth526/abstract_search_for_variant_annotation

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

    Language:Python0200

  • dominiquefastus/ClinPOP

    Web application to analyse ClinVar marker frequencies in populations over time. R-shiny application for population genetics analysis.

    Language:R0100

  • halbritter-lab/Amissense

    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.

    Language:Python02470

  • JuanjoMrt/ClinVar

    Implementation of the data type ClinVar

    Language:C++0100

  • sreejithdotme/VariantSearchPy

    Python Clinical Variant Tools This repository hosts Python scripts designed to streamline the retrieval of clinical variant information from authoritative sources such as ClinVar and DisGeNET. These tools facilitate efficient data extraction and analysis for researchers and professionals in the field of genetics and genomics.

    Language:Python0100

  • BIMSBbioinfo/collab_meyer_selbach_glut1

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

    100