snpeff

There are 0 repository under snpeff topic.

• patidarr / ngs_pipeline

  Exome/Capture/RNASeq Pipeline Implementation using snakemake

  pipelinengs-pipelinesnakemakeannovarexomepanelrnaseqngssnpefftophatgatkfastq
  Language:Python 45

• SoloEdward / HgvsGo

  HgvsGo is a program designed for analyzing "c." and "p." HGVS (Human Genome Variation Society) notations for single nucleotide variations (SNVs) and small insertions/deletions (indels) after variant calling. It serves as an alternative to tools like snpEff and VEP.

  hgvsvepsnpeffpanelvariantbioinformaticsivdldt
  Language:C++ 14

• tsy19900929 / snpeffToMaf

  Converts snpeff annotations into MAF

  snpeffmaf
  Language:Perl 9

• waqasuddinkhan / MACARON-GenMed-LabEx

  Multi-bAse Codon-Associated variant Re-annotatiON (MACARON)

  macaronsnpclusterpcsnvsnv-annotationsnpcodonannotatorannotation-frameworkvcfsnpeffgatksnvvariantspythongithub
  Language:Python 7

• bioinfo-chru-strasbourg / howard

  Highly Open Workflow for Annotation & Ranking toward genomic variant Discovery. HOWARD annotates and prioritizes genetic variations, calculates and normalizes annotations, translates files in multiple formats (e.g. vcf, tsv, parquet) and generates variants statistics.

  geneticvariationsannotationvcfannovarsnpeffduckdbparquetprioritization
  Language:Python 3

• COMBAT-TB / vcf2neo

  A tool to import SnpEff annotated files to a Neo4j Graph database

  variant-callingneo4j-databasegraph-databasetuberculosispy2neosnpeff
  Language:Python 3

• COMBAT-TB / tbvcfreport

  Generate an interactive HTML-based report from M.tb SnpEff annotated VCF(s)

  vcf-filestuberculosisvariant-annotationsneo4jsnpeffgalaxy-projectcombat-tb-neodbvcf
  Language:HTML 2

• scholl-lab / vcf-filtering

  A collection of scripts for filtering annotated variant call format files

  bcftoolsgeneticskidney-diseaserare-diseaserare-variant-analysissnpeffvcfsnpsift
  Language:Shell 2

• tdayris-perso / vcf-annotate-snpeff-snpsift

  Snakemake workflow designed to annotate VCF files withe SnpEff / SniSift

  bioinformatics-pipelinedbnsfpgwas-catalogmsigdbreproducible-sciencesnakemake-workflowssnpeff
  Language:Python 2

• CDCgov / snpeffr

  R package for mycosnp-nf to parse outputs from snpeffr to desired formats for MDB/Fungi Net

  mycoclitoolrpackagesnpeff
  Language:R 1

• yenon118 / AlleleCatalog

  The AlleleCatalog pipeline is built for generating Allele Catalog datasets using next-generation sequencing (NGS) based genetic data and metadata.

  python3snakemakebeaglesnpeff
  Language:Python 1

• yenon118 / PhenoDist

  The PhenoDist pipeline is built for generating phenotype distributions for alleles in variant positions and utilizing statistical methods to test for variant position significance.

  allelebeaglephenotypepython3snakemakesnpeff
  Language:Python