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variant-analysis

Here are 50 public repositories matching this topic...

HexraysToolbox

patois / HexraysToolbox

Hexrays Toolbox - Find code patterns within the Hexrays AST

pattern-matching decompiler reverse-engineering ast loops ida-pro idapython variant-analysis plagiarism-detection code-similarity vulnerability-scanner ctree bug-finding hexrays idapython-script hex-rays code-comparison hexrays-decompiler code-pattern-matching hexrays-toolbox

Updated Nov 5, 2021
Python

brentp / slivar

Sponsor

genetic variant expressions, annotation, and filtering for great good.

genomics variant-analysis rare-variant-analysis variant-interpretation rare-disease

Updated Apr 15, 2022
Nim

githubsatelliteworkshops / codeql

GitHub Satellite 2020 workshops on finding security vulnerabilities with CodeQL for Java/JavaScript.

security workshops satellite variant-analysis 2020 codeql

Updated Mar 8, 2022

brentp / echtvar

Sponsor

echt rapid variant annotation and filtering

genomics variant-annotations genetic-variants variant-analysis

Updated Aug 3, 2022
Rust

KarchinLab / open-cravat

A modular annotation tool for genomic variants

javascript python bioinformatics genomics python3 bioinformatics-pipeline annotation-tool variant-annotations variant-annotation variant-analysis genomic-data-analysis bioinformatics-tool

Updated May 10, 2022
JavaScript

Illumina / PlatinumGenomes

The Platinum Genomes Truthset

indels variant-analysis snvs

Updated Nov 8, 2017

yjx1217 / simuG

simuG: a general-purpose genome simulator

genomics simulation variant-analysis structural-variation

Updated May 25, 2022
Perl

bio-ontology-research-group / phenomenet-vp

A phenotype-based tool for variant prioritization in WES and WGS data

variants disease phenotypes variant-annotations variant-analysis omim vcf-files translationalscience prioritize-disease-variants rare-variants synthetic-genomes

Updated Jul 6, 2022
Java

Illumina / witty.er

What is true, thank you, ernestly. A large variant benchmarking tool analogous to hap.py for small variants.

benchmarking variants cnv copy-number-variation variant-analysis structural-variation

Updated Jul 14, 2022
C#

mklarqvist / tachyon

High-level API for storing and querying sequence variant data

bioinformatics compression genomics genetics variant-analysis

Updated May 24, 2019
C++

Yandell-Lab / VVP-pub

VVP (VAAST Variant Prioritizer) rapidly prioritizes genetic variants

variant-analysis

Updated Mar 10, 2018
C

Illumina / happyR

R tools to interact with hap.py output

bioinformatics r variant-analysis vcf-comparison

Updated Jul 12, 2019
R

Triti-Map

fei0810 / Triti-Map

A Snakemake-based pipeline for gene mapping in Triticeae.

bioinformatics snakemake genomics epigenetics variant-analysis

Updated Mar 5, 2022
Python

biocommons / anyvar

[in development] Proof-of-Concept variation translation, validation, and registration service

bioinformatics genome-analysis variant-analysis variation

Updated Jul 12, 2022
Python

Illumina / happyCompare

Reporting toolbox for happy output

benchmarking bioinformatics r variant-analysis

Updated Jul 12, 2019
R

shiltemann / Virtual-Normal-Correction

Set of commandline tools for analysis of tumor variants without a matching normal. Method described in Genome Research: http://genome.cshlp.org/content/25/9/1382.full

genomics cancer-genomics variant-analysis

Updated May 10, 2022
Shell

KalinNonchev / gnomAD_DB

This package scales the huge gnomAD files to a SQLite database, which is easy and fast to query. It extracts from a gnomAD vcf the minor allele frequency for each variant.

database annotation genetics variant-analysis rare-variant-analysis gnomad

Updated Jul 13, 2022
Python

elowy01 / vcf_filtering

Filter a VCF to discard false positive variants

machine-learning genomics variant-calling variant-filtration variant-analysis nextflow-pipelines

Updated Nov 25, 2021
Python

NCBI-Hackathons / Complex_Phenogeno

Mapping complex genotypes to phenotypic subclusters

phenotype variant-analysis visiting-bioinformatician

Updated Jan 31, 2018
Python

bihealth / varfish-docker-compose

Setup VarFish as using Docker Compose

genetics vcf variant-filtration variant-analysis varfish

Updated Jun 21, 2022
Shell

ALAPY / AGx

Variant annotation and filtration server ALAPY Genome Explorer

ngs vcf vcf-data variant-annotations vcftools variant-analysis vcf-files

Updated May 22, 2017
Shell

ucdavis-bioinformatics-training / 2017-August-Variant-Analysis-Workshop

From SNP and structural variant calling to GWAS.

bioinformatics workshop-materials variant-analysis

Updated Aug 25, 2017
HTML

LOVDnl / LOVDplus

LOVD+ -- LOVD for diagnostics: analysis of whole-exome data using LOVD.

ngs whole-exome-sequencing variant-analysis ngs-analysis variant-interpretation lovd

Updated Nov 24, 2021
PHP

dbmi-bgm / granite

A collection of software to work with genomic variants

vcf variants snv variant-filtration variant-analysis snvs trio de-novo-mutation single-nucleotide-variation de-novo-mutations compound-heterozygous

Updated Jun 10, 2022
Python

tatajuba

quadram-institute-bioscience / tatajuba

Identification and classification of homopolymeric tracts from reads.

bioinformatics genomics phylogenetics variant-analysis

Updated Aug 2, 2022
C

quinlan-lab / mendacity

language-agnostic testing for inheritance models

genomics vcf variant-analysis mendelian-genetics

Updated Apr 25, 2018
Python

NCBI-Hackathons / ClinVar_in_3D

Mapping Clinically Relevant Mutations to Protein Structures

ncbi variant-analysis beta-release

Updated Nov 8, 2017
HTML

tsnorri / vcf2multialign

Create a set of reference-guided multiple-aligned haplotypes or founder sequences from a variant call file and a reference sequence.

bioinformatics haplotypes variant-analysis founder-sequences

Updated Jan 10, 2022
C++

NCBI-Hackathons / ApeShape

A Prototype for Defining the Ancestral Alleles for Ones that Modify Human Phenotypes

ncbi alpha-release variant-analysis

Updated Jan 16, 2018
Python

NagaComBio / TiNDA

Tumor in normal detection

quality-control ngs cancer-genomics variant-calling variant-analysis ngs-analysis

Updated Jan 11, 2022
R

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