Topic: clinvar Goto Github
Some thing interesting about clinvar
Some thing interesting about clinvar
clinvar,Flask-based webapp and API used to query and generate tabular reports of data relating to clinically-observed genetic variants
User: autovivification
clinvar,Automate ClinVar lookup of sequencing results from TermoFischer Ion Torrent machines.
User: bence42
clinvar,neural networks to score PubMed search results for similarity to evidence abstracts from ClinVar or CIViC
User: beth526
clinvar,Reproduce bioinformatics analysis for the paper Meyer, K. et al., Cell, 2018.
Organization: bimsbbioinfo
clinvar,Short Linear Motif (SLiM) Analysis in the context of human diseases
Organization: bimsbbioinfo
clinvar,Data repository for NeurIPS 2022 LMRL workshop paper.
User: cx0
clinvar,Characterization of Germline variants
Organization: ding-lab
Home Page: https://ding-lab.github.io/CharGer/
clinvar,Web application to analyse ClinVar marker frequencies in populations over time. R-shiny application for population genetics analysis.
User: dominiquefastus
clinvar,An Open Source Web Application for Genetic Data (SNPs) Data Crawling
User: glasgowm148
Home Page: http://www.phenotype.dev
clinvar,Identification of cancer-causing variants
User: hansi-thewarapperuma
clinvar,"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.
User: kevinmastascusa
clinvar,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
User: mchockalingam
clinvar,ChemoProteomic-Detected Amino Acids (CpDAAs) to missense deleteriousness predictions and ClinVar pathogenic mutations
User: mfpfox
Home Page: https://mfpfox.github.io/MAPPING/
clinvar,UPWARD: Uniting People Working Against Rare Diseases
Organization: ncbi-hackathons
clinvar,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
User: pstawinski
Home Page: https://genebe.net
clinvar,An R package for interpreting genetic variants according to the ACMG guidelines.
User: ronaldosfjunior
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 reappearance-weighted impact score (MARWIS), as well as their difficulty-adjusted impact score (DAIS). 4) Rank ClinVar genes.
Organization: rothlab
clinvar,To predict cryptic cleavage sites in proteins with non-canonical signal peptides
Organization: russelllab
Home Page: http://spc.russelllab.org
clinvar,automatic update Clinvar db for ANNOVAR
User: ryuzheng
clinvar,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.
User: sreejithdotme
clinvar,Easy to use web interface for biologists to look for genetic variants and understand their deleteriousness using DITTO scores.
Organization: uab-cgds-worthey
Home Page: https://cgds-ditto.streamlit.app/
clinvar,A bioinformatics pipeline to identify the best available PDB structures for all available variants for specified genes of interest
User: utilon
clinvar,ClinVar Submission API Made Easy
Organization: varfish-org
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