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

A Tool to Annotate and Prioritize Exome Variants

🔅 State manager for deeply nested states

Exome/Capture/RNASeq Pipeline Implementation using snakemake

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

WES HLA Typing based on multiple alternative tools

Target exome sequencing analysis for NYU NGS580 gene panel

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

PCR primer design

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

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

Monthly updated list of diagnostically relevant genes

Human Whole Exome Sequencing

simple pipeline for processing exome sequencing data using BWA and GATK4

Variantes genéticas de amostras de Rattus norvegicus utilizando GATK4

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.

Snakemake pipeline to validate exfi's performance

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