andrewjesaitis / variant-annotation-comparison-2017View external linksLinks
Work supporting the comparison of SnpEff and VEP effect prediction and HGVS identifiers
☆11Mar 15, 2017Updated 8 years ago
Alternatives and similar repositories for variant-annotation-comparison-2017
Users that are interested in variant-annotation-comparison-2017 are comparing it to the libraries listed below
Sorting:
- Seave is a web platform that enables genetic variants to be easily filtered and annotated with in silico pathogenicity prediction scores …☆16Aug 9, 2018Updated 7 years ago
- hgvslib provides functions to parse and compare the equivalency of variant strings described according to Human Genome Variation Society …☆18Dec 26, 2022Updated 3 years ago
- ☆15Nov 22, 2022Updated 3 years ago
- Biopet docs☆17Aug 2, 2018Updated 7 years ago
- Gene Exploration System for Variance☆22Dec 8, 2022Updated 3 years ago
- Repo for downloading and storing OMIM data☆19Oct 6, 2016Updated 9 years ago
- A local realigner around InDels for MethylSeq data☆12Apr 28, 2016Updated 9 years ago
- Single-pass probabilistic duplicate marking of alignments with a Bloom filter.☆22Aug 7, 2023Updated 2 years ago
- Automated ACMG/AMP classification for human variants associated with congenital hearing loss☆11May 14, 2025Updated 9 months ago
- A tool for detecting CNVs from WGS data☆11Jul 9, 2020Updated 5 years ago
- Interactive table from gemini output☆10Mar 5, 2019Updated 6 years ago
- Extremely fast Variant Call Format annotation☆11Dec 25, 2024Updated last year
- Reference server implementation for the GA4GH HTSget API standard.☆12May 11, 2023Updated 2 years ago
- A software package for detection of copy number alterations from tumor samples☆12May 8, 2015Updated 10 years ago
- Official code repository for JAX-CNV☆14Jan 16, 2020Updated 6 years ago
- Visualisation and prioritisation of genomic variants from human exome sequencing projects☆13Apr 23, 2019Updated 6 years ago
- Nanopore plasmid pipeline (FAST5 basecalling, assembly, plasmid identification and antimicrobial resistance genes identification).☆13Apr 20, 2021Updated 4 years ago
- Simulator for structural variants in various types of next-generation sequencing data☆11Mar 21, 2017Updated 8 years ago
- Efficient base quality score recalibrator for NGS data☆24Nov 28, 2015Updated 10 years ago
- an open-source pipeline for Affymetrix Axiom genotyping workflow on livestock species☆14Jul 22, 2016Updated 9 years ago
- Streamlined duo/trio analysis and pedigree haplotyping: from VCF to interactive HTML☆15Oct 30, 2024Updated last year
- Roslin is a reproducible and reusable workflow for Cancer Genomic Sequencing Analysis☆16Nov 13, 2024Updated last year
- genome simulation across a population with zeta-distributed allele frequency, snps, insertions, deletions, and multi-nucleotide polymorph…☆16Mar 3, 2022Updated 3 years ago
- ☆13Jan 23, 2020Updated 6 years ago
- ☆11Mar 5, 2025Updated 11 months ago
- Draw Circos in Python☆31Sep 19, 2022Updated 3 years ago
- Probabilistic HLA typing☆35Aug 31, 2019Updated 6 years ago
- Python based pipeline management software for clusters (but checkout toil: https://github.com/BD2KGenomics/toil, its successor)☆24Sep 4, 2017Updated 8 years ago
- MrMosaic (Genomic Mosaic Structural Variant Caller)☆15Jul 21, 2017Updated 8 years ago
- Perl and Python scripts allowing to get sequence information from GenBank, RefSeq or ENA sequence repositories☆14Mar 29, 2025Updated 10 months ago
- Example R scripts to run burden and association analysis on array CNV data☆14Nov 9, 2016Updated 9 years ago
- A complete suite of tools to work with genomic variation data, from VCF tools to variant profiling or genomic statistics☆14Feb 12, 2016Updated 10 years ago
- Analysis from kallisto paper☆32Feb 10, 2016Updated 10 years ago
- A curated list of awesome clonality and tumor heterogeneity resources☆15Jun 25, 2019Updated 6 years ago
- Allele frequency filtering for Mendelian variant discovery☆18Sep 27, 2016Updated 9 years ago
- Easily draw publication-quality figures of splicing quantitative trait loci☆16Feb 2, 2018Updated 8 years ago
- Structural variant pipeline☆18Jun 25, 2020Updated 5 years ago
- IndexTools is a toolkit for extremely fast NGS analysis based on index files.☆17Aug 19, 2022Updated 3 years ago
- Whole Genome Sequenceing Structural Variation Pipelines☆18Apr 4, 2019Updated 6 years ago