exome

exomiser/Exomiser

A Tool to Annotate and Prioritize Exome Variants

Marcisbee/exome

🔅 State manager for deeply nested states

patidarr/ngs_pipeline

Exome/Capture/RNASeq Pipeline Implementation using snakemake

nf-core/exoseq

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

lkuchenb/MultiHLA

WES HLA Typing based on multiple alternative tools

NYU-Molecular-Pathology/NGS580-nf

Target exome sequencing analysis for NYU NGS580 gene panel

bioinf/RMAhunter

RRafiee/XHMM

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

Gelblab/MEM

MEM : Mendelian Error Method to rapidly detect deletions in whole exome and genome trio sequence data

LordGenome/phigis

PCR primer design

Nealelab/WES_QC_Hail

berntpopp/morbidgenes

Monthly updated list of diagnostically relevant genes

genomics-geek/exome_slicer

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

blakngu/humanwes

Human Whole Exome Sequencing

christacaggiano/exome_processing_pipeline

simple pipeline for processing exome sequencing data using BWA and GATK4

renatopuga/exoma-de-rato

Variantes genéticas de amostras de Rattus norvegicus utilizando GATK4

rockbio/rockbio

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

tycheleturner/exome_class

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

lucianhu/Masterarbeit

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

YogiOnBioinformatics/Tumor-Exome-Mutation-Analysis

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

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.

jlanga/exfi_validation

Snakemake pipeline to validate exfi's performance

snewhouse/exomiser-clone