exome

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

🔅 State manager for deeply nested states

A Tool to Annotate and Prioritize Exome Variants

A comprehensive cancer DNA/RNA analysis and reporting pipeline

Exome/Capture/RNASeq Pipeline Implementation using snakemake

An online tool for annotating, filtering and diagnosing patients (Exome and Genome) with Mendelian Disorders.

This is a Genome Annotation Framework developed with the goal of annotating VCF files (Exomes or Genomes) from patients with Mendelian Disorders.

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

Automated end to end NGS exome analysis pipeline. One command from FASTQ to fully annotated variants with QC, alignment, GATK calling, ANNOVAR and snpEff annotation, functional classification, and final ZIP packaging.

PCR primer design

simple pipeline for processing exome sequencing data using BWA and GATK4

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)

NGS contamination QC pipeline integrating VerifyBamID2 and NGSTroubleFinder for BAM-level sequencing quality control

Monthly updated list of diagnostically relevant genes