Topic: variant-filtration Goto Github
Some thing interesting about variant-filtration
Some thing interesting about variant-filtration
variant-filtration,Mi-DNA: web application for an integrated sequence variant interpretation processing pipeline
User: actuarialnematode
variant-filtration,A WDL-based workflow for extraction of variants and their associated info from large VCF files
User: anand-imcm
variant-filtration,Annotation of VCF variants with functional impact and from databases (executable+library)
Organization: charite
Home Page: http://jannovar.readthedocs.io/en/master/
variant-filtration,Filter a VCF to discard false positive variants
User: elowy01
variant-filtration,profiling variants for the pangenes alignments
User: gauravcodepro
variant-filtration,Collection of expressions that can be used in slivar
User: genomics-geek
variant-filtration,Python wrapper and web-server for Ensembl VEP
User: maxim-k
Home Page: https://amp.pharm.mssm.edu/PyVEP
variant-filtration,pyAmpli: an amplicon-based variant filter pipeline for targeted enriched resequencing data
User: mbeyens
Home Page: https://mbeyens.github.io/pyAmpli
variant-filtration,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
variant-filtration,Filtering vcf with population gvcf
User: shanghungshih
variant-filtration,multi-anchors filtering and multi-threads implementation for vcf filtering
User: shanghungshih
variant-filtration,Genomic VCF to tab-separated values
User: sigven
variant-filtration,Genome annotation based on Rust and RocksDB
Organization: varfish-org
variant-filtration,Clinvar data builds for annonars
Organization: varfish-org
variant-filtration,(Partial) port of biocommons/bioutils to Rust
Organization: varfish-org
variant-filtration,Re-implementation of the CADA phenotype-based prioritization algorithm
Organization: varfish-org
variant-filtration,Simple REST API wrapper for CADD-scripts
Organization: varfish-org
variant-filtration,Mocking the CADD REST API server for VarFish development
Organization: varfish-org
variant-filtration,A port of biocommons/hgvs to the Rust programming language
Organization: varfish-org
variant-filtration,VEP-like tool for sequence ontology and HGVS annotation of VCF files
Organization: varfish-org
variant-filtration,Utilities for using RocksDB as read-only lookup table (after initial bulk import)
Organization: varfish-org
variant-filtration,Automated evaluation of ACMG rules
Organization: varfish-org
variant-filtration,A port of biocommons/seqrepo to the Rust programming language
Organization: varfish-org
variant-filtration,DEPRECATED Convert annotation database files to Var:fish: import format
Organization: varfish-org
variant-filtration,(Legacy) Annotate variants for import into VarFish server.
Organization: varfish-org
variant-filtration,VarFish REST API client (CLI + Python package)
Organization: varfish-org
variant-filtration,Experimental VarFish CLI based on aws-smithy
Organization: varfish-org
variant-filtration,Proof of concept client for clinical beacons API
Organization: varfish-org
variant-filtration,Scripts for generating the data used in the VarFish course
Organization: varfish-org
variant-filtration,Repository for building IGSR data sets for use in VarFish
Organization: varfish-org
variant-filtration,Download public databases for VarFish
Organization: varfish-org
variant-filtration,VarFish software development documentation
Organization: varfish-org
variant-filtration,(Next-generation; in-development) VarFish Docker Compose
Organization: varfish-org
variant-filtration,Setup VarFish as using Docker Compose
Organization: varfish-org
variant-filtration,Script and Docker container for VarFish installation and data download
Organization: varfish-org
variant-filtration,DEPRECATED, use https://github.com/bihealth/varfish-docker-compose instead
Organization: varfish-org
variant-filtration,VarFish: comprehensive DNA variant analysis for diagnostics and research
Organization: varfish-org
variant-filtration,Rust-based background worker for varfish-server
Organization: varfish-org
variant-filtration,VarFish (Snakemake) Client Workflow for Querying Snakemake
Organization: varfish-org
variant-filtration,VarFish (Snakemake) Client Workflow for Validation
Organization: varfish-org
variant-filtration,Versatile Interface for Genetics Utilization of Nice Ontologies
Organization: varfish-org
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