lucianhu/Masterarbeit

Leveraging WES short reads for PAN-EXOME creation and analysis.

Language: WDL - Size: 18.6 MB - Last synced: 9 days ago - Pushed: 4 months ago - Stars: 0 - Forks: 0

brentp/mosdepth

fast BAM/CRAM depth calculation for WGS, exome, or targeted sequencing

Language: Nim - Size: 1.18 MB - Last synced: 14 days ago - Pushed: about 1 month ago - Stars: 657 - Forks: 100

YogiOnBioinformatics/Tumor-Exome-Mutation-Analysis

Statistical analysis on Mutation Annotation Format files from Whole-Exome Sequencing of Tumor samples and Controls.

Language: Jupyter Notebook - Size: 2.62 MB - Last synced: 21 days ago - Pushed: over 1 year ago - Stars: 0 - Forks: 2

Marcisbee/exome

🔅 State manager for deeply nested states

Language: TypeScript - Size: 3.36 MB - Last synced: 25 days ago - Pushed: 2 months ago - Stars: 138 - Forks: 4

exomiser/Exomiser

A Tool to Annotate and Prioritize Exome Variants

Language: Java - Size: 279 MB - Last synced: about 1 month ago - Pushed: 2 months ago - Stars: 180 - Forks: 54

bioinf/RMAhunter

Language: HTML - Size: 116 MB - Last synced: about 2 months ago - Pushed: about 2 months ago - Stars: 7 - Forks: 0

rockbio/rockbio Fork of raonyguimaraes/mendelmd

Cloud based analysis for Doctors, Researchers, Bioinformaticians and Developers.

Language: HTML - Size: 39.9 MB - Last synced: about 2 months ago - Pushed: about 2 months ago - Stars: 0 - Forks: 0

nf-core/exoseq 📦

Please consider using/contributing to https://github.com/nf-core/sarek

Language: Nextflow - Size: 2.77 MB - Last synced: 5 months ago - Pushed: over 5 years ago - Stars: 14 - Forks: 25

genomics-geek/exome_slicer

Exome Slicer - Application to evaluate sequencing quality when designing an Exome Slice (NGS virtual panel)

Language: Python - Size: 20.5 MB - Last synced: 7 months ago - Pushed: over 4 years ago - Stars: 2 - Forks: 0

RRafiee/XHMM

eXome Hidden Markov model (XHMM) - Copy Number Variants (CNVs) from Whole Exome Sequencing Data

Language: Shell - Size: 13 MB - Last synced: 7 months ago - Pushed: about 7 years ago - Stars: 5 - Forks: 3

patidarr/ngs_pipeline

Exome/Capture/RNASeq Pipeline Implementation using snakemake

Language: Python - Size: 46.6 MB - Last synced: 7 months ago - Pushed: about 6 years ago - Stars: 43 - Forks: 19

berntpopp/morbidgenes

Monthly updated list of diagnostically relevant genes

Language: R - Size: 169 MB - Last synced: 7 months ago - Pushed: 7 months ago - Stars: 2 - Forks: 0

jlanga/exfi_validation

Snakemake pipeline to validate exfi's performance

Language: Python - Size: 8.97 MB - Last synced: 9 months ago - Pushed: over 5 years ago - Stars: 0 - Forks: 1

christacaggiano/exome_processing_pipeline

simple pipeline for processing exome sequencing data using BWA and GATK4

Language: Shell - Size: 9.77 KB - Last synced: 10 months ago - Pushed: almost 4 years ago - Stars: 1 - Forks: 0

LordGenome/phigis

PCR primer design

Language: Perl - Size: 18.6 KB - Last synced: 10 months ago - Pushed: over 7 years ago - Stars: 4 - Forks: 1

lkuchenb/MultiHLA

WES HLA Typing based on multiple alternative tools

Language: Python - Size: 110 KB - Last synced: 5 months ago - Pushed: about 3 years ago - Stars: 12 - Forks: 2

blakngu/humanwes

Human Whole Exome Sequencing

Language: HTML - Size: 13.8 MB - Last synced: 12 months ago - Pushed: over 1 year ago - Stars: 1 - Forks: 0

Nealelab/WES_QC_Hail

Language: Python - Size: 260 KB - Last synced: about 1 year ago - Pushed: over 2 years ago - Stars: 3 - Forks: 0

renatopuga/exoma-de-rato

Variantes genéticas de amostras de Rattus norvegicus utilizando GATK4

Language: HTML - Size: 4.02 MB - Last synced: about 1 year ago - Pushed: about 3 years ago - Stars: 1 - Forks: 0

NYU-Molecular-Pathology/NGS580-nf

Target exome sequencing analysis for NYU NGS580 gene panel

Language: Nextflow - Size: 1.59 MB - Last synced: 11 months ago - Pushed: over 2 years ago - Stars: 8 - Forks: 6

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.

Language: Python - Size: 171 KB - Last synced: about 1 year ago - Pushed: almost 5 years ago - Stars: 0 - Forks: 0

snewhouse/exomiser-clone

Size: 8.79 KB - Last synced: 7 months ago - Pushed: over 5 years ago - Stars: 0 - Forks: 0

tycheleturner/exome_class

Codes for exome sequencing class being taught by Tychele N. Turner, Ph.D.

Language: R - Size: 7.62 MB - Last synced: 12 months ago - Pushed: over 6 years ago - Stars: 0 - Forks: 1