20 skills found
pcingola / SnpEffNo description available
patidarr / Ngs PipelineExome/Capture/RNASeq Pipeline Implementation using snakemake
brentp / Geneimpactsprioritize effects of variant annotations from VEP, SnpEff, et al.
AstraZeneca-NGS / Simple Sv AnnotationSimplify snpEff annotations for interesting cases
SoloEdward / HgvsGoHgvsGo 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.
bioinfo-chru-strasbourg / HowardHighly Open Workflow for Annotation & Ranking toward genomic variant Discovery
tsy19900929 / SnpeffToMafConverts snpeff annotations into MAF
andrewjesaitis / Variant Annotation Comparison 2017Work supporting the comparison of SnpEff and VEP effect prediction and HGVS identifiers
DBHi-BiC / SnpEffsnpEff with HGVS annotations for nucleotide changes ***NOT THE OFFICIAL snpEff REPOSITORY***
Leo-Poon-Lab / Parsing SnpEffUse SnpEff to annotate SNPs and parse the results into table for regular uses.
waqasuddinkhan / MACARON GenMed LabExMulti-bAse Codon-Associated variant Re-annotatiON (MACARON)
tmoerman / Adam FxAn ADAM extension library for loading .vcf files annotated with SnpEff and SnpSift.
Babajan-B / Exome Analysis End To ENDAutomated end to end NGS exome analysis pipeline. One command from FASTQ to fully annotated variants with QC, alignment, GATK calling, ANNOVAR and snpEff annotation, functional classification, and final ZIP packaging.
sanger-pathogens / SnpEffWrapperTakes a VCF and applies annotations from a GFF using SnpEff
scholl-lab / Vcf FilteringA collection of scripts for filtering annotated variant call format files
ahmadsam66 / Acmg Variant ClassifierA Python pipeline for ACMG‑like variant classification from ANNOVAR/SnpEff outputs, generating tables and styled PDF reports with allele frequencies, variant categories, top genes, and detailed pathogenic/likely pathogenic variant summaries.
andrewjesaitis / Cwl TutorialTutorial for the Common Workflow Language using SnpEff
vibbits / Snpeffectsnpeffect pipeline
HTGenomeAnalysisUnit / Csq SelectorFilter and select variant consequence annotations from snpEff, VEP or bcftools
refmyoussef-source / Project Variant CallingBioinformatics pipeline (GATK/BWA/SnpEff) to identify antibiotic resistance mutations (DAP/VAN) in Staphylococcus aureus.
