exome

There are 0 repository under exome topic.

brentp / mosdepth
fast BAM/CRAM depth calculation for WGS, exome, or targeted sequencing
coverage genome depth exome wgs sequencing nim nim-lang hacktoberfest
Language:Nim 788
Marcisbee / exome
🔅 State manager for deeply nested states
javascript typescript state react exome state-tree state-management state-manager js
Language:TypeScript 276
Exomiser
exomiser / Exomiser
A Tool to Annotate and Prioritize Exome Variants
variants analysis genomics exome phenotypes monarchinitiative
Language:Java 233
nf-core / oncoanalyser
A comprehensive cancer DNA/RNA analysis and reporting pipeline
nextflow nf-core pipeline workflow cancer clinical dna exome ngs panel rna targeted wgs wts wigits
Language:Nextflow 92
patidarr / ngs_pipeline
Exome/Capture/RNASeq Pipeline Implementation using snakemake
pipeline ngs-pipeline snakemake annovar exome panel rnaseq ngs snpeff tophat gatk fastq
Language:Python 47
lkuchenb / MultiHLA
WES HLA Typing based on multiple alternative tools
workflow immunology immunoinformatics sequencing exome genome
Language:Python 18
nf-core / exoseq
Please consider using/contributing to https://github.com/nf-core/sarek
nf-core nextflow workflow exome exome-sequencing genomics variant-calling
Language:Nextflow 17
NYU-Molecular-Pathology / NGS580-nf
Target exome sequencing analysis for NYU NGS580 gene panel
nextflow pipeline docker singularity exome exome-sequencing-analysis
Language:Nextflow 10
bioinf / RMAhunter
exome genome variant-calling
Language:HTML 9
RRafiee / XHMM
eXome Hidden Markov model (XHMM) - Copy Number Variants (CNVs) from Whole Exome Sequencing Data
copy-number-variation cnv pca pca-analysis hidden-markov-model xhmm deletion duplication exome exomes pipeline next-generation-sequencing ngs
Language:Shell 6
Nealelab / WES_QC_Hail
outline qc wes hail exome
Language:Python 4
christacaggiano / exome_processing_pipeline
simple pipeline for processing exome sequencing data using BWA and GATK4
exome gatk gatk4
Language:Shell 3
Gelblab / MEM
MEM : Mendelian Error Method to rapidly detect deletions in whole exome and genome trio sequence data
structral-variation mendelian-error deletion exome
Language:Perl 3
LordGenome / phigis
PCR primer design
exome pcr-primer
Language:Perl 3
berntpopp / morbidgenes
Monthly updated list of diagnostically relevant genes
database exome gene genome panel rare-disease
Language:R 2
genomics-geek / exome_slicer
Exome Slicer - Application to evaluate sequencing quality when designing an Exome Slice (NGS virtual panel)
bioinformatics django django-rest-framework exome genomics graphql react reactjs
Language:Python 2
blakngu / humanwes
Human Whole Exome Sequencing
exome human sequencing whole
Language:HTML 1
renatopuga / exoma-de-rato
Variantes genéticas de amostras de Rattus norvegicus utilizando GATK4
bioinformatics exome rattus-norvegicus bwa gatk4 vep annotations education
Language:HTML 1
rockbio / rockbio
Cloud based analysis for Doctors, Researchers, Bioinformaticians and Developers.
analysis bioinformatics exome genome jupyterlab
Language:HTML 1
tycheleturner / exome_class
Codes for exome sequencing class being taught by Tychele N. Turner, Ph.D.
exome class qc snvs cnvs gatk freebayes conifer xhmm
Language:R 1
lucianhu / Masterarbeit
Leveraging WES short reads for PAN-EXOME creation and analysis.
exome exome-pipeline exome-sequencing ngs ngs-analysis ngs-pipeline pangenome pangenome-graph pangenome-pipeline pangenomic-analysis
Language:WDL 0
starsareintherose / RGBEPP
Reference Genome based Exon Phylogeny Pipeline
exome exome-sequencing exome-sequencing-analysis next-generation-sequencing phylogeny
Language:D 0
YogiOnBioinformatics / Tumor-Exome-Mutation-Analysis
Statistical analysis on Mutation Annotation Format files from Whole-Exome Sequencing of Tumor samples and Controls.
bioinformatics cancer computational-biology container docker exome image jupyter jupyterlab maf mutations python statistics stats tumor
Language:Jupyter Notebook 0
Grelot / diabetesGenetics--COAT
COverage Analysis Tool have been developed in 2016. It aims to automatically find bad quality regions of coding sequences in a set of sequencing data. It includes a graphical interface.
bam-files coding-regions exome-sequencing python genome genetics bioinformatics samtools graphical-interface exome sequencing ngs qt gui
Language:Python
jlanga / exfi_validation
Snakemake pipeline to validate exfi's performance
snakemake rna-seq genome exome transcriptome
Language:Python
Schahrjar / ExHap
Retrieving homozygosity haplotypes from exome variants
haplotype exome genome homozygosity
Language:Python
Schahrjar / IRExom
A population-scale exome database from Iranians
exome population-genomics
Schahrjar / RNUscanner
exome off-target regions scanner for clinically significant variants
exome
Language:Shell
snewhouse / exomiser-clone
next-generation-sequencing variant-annotations ngs exome genome whole-genome-sequencing whole-exome-sequencing exomiser genomiser remm hpo phenix hiphive phive exomewalker hg19 b37

exome

brentp / mosdepth

Marcisbee / exome

exomiser / Exomiser

nf-core / oncoanalyser

patidarr / ngs_pipeline

lkuchenb / MultiHLA

nf-core / exoseq

NYU-Molecular-Pathology / NGS580-nf

bioinf / RMAhunter

RRafiee / XHMM

Nealelab / WES_QC_Hail

christacaggiano / exome_processing_pipeline

Gelblab / MEM

LordGenome / phigis

berntpopp / morbidgenes

genomics-geek / exome_slicer

blakngu / humanwes

renatopuga / exoma-de-rato

rockbio / rockbio

tycheleturner / exome_class

lucianhu / Masterarbeit

starsareintherose / RGBEPP

YogiOnBioinformatics / Tumor-Exome-Mutation-Analysis

Grelot / diabetesGenetics--COAT

jlanga / exfi_validation

Schahrjar / ExHap

Schahrjar / IRExom

Schahrjar / RNUscanner

snewhouse / exomiser-clone