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.

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

Human Whole Exome Sequencing

Reference Genome based Exon Phylogeny Pipeline

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

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

Monthly updated list of diagnostically relevant genes

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

Variantes genéticas de amostras de Rattus norvegicus utilizando GATK4

Snakemake pipeline to validate exfi's performance

simple pipeline for processing exome sequencing data using BWA and GATK4

PCR primer design

WES HLA Typing based on multiple alternative tools

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

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

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

Target exome sequencing analysis for NYU NGS580 gene panel