Pipeline for Somatic Variant Calling with WES and WGS data

Easy Copy Number !

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

Ethnicity Annotation from Whole-Exome and Targeted Sequencing Data

A fork of the project Excavator2 from sourceforge.

This pipeline has moved! Please see:

Accurate and robust inference of genetic ancestry from cancer-derived molecular data across genomic platforms

As part of an overall strategy for improving therapies for childhood cancers, the PPTC seeks to develop models for the types of tumors that will be encountered in early phase clinical testing by establishing patient derived xenografts (PDXs) from high-risk childhood cancers refractory to current standard of care treatments. Genomic profiling of …

The transplot package can be used to make multi-track plots of Next Generation Sequencing (NGS) data for gene transcripts, namely for depth of coverage and for the distribution of variants and protein domains.

Scripts used on a cluster that demonstrate vcf file manipulation and preparation.

Main Repository for my MASTER'S THESIS PROJECT

Miscellaneous pipelines for genomics computation analysis in a SGE HPC platform.

colorectal cancer

Selects possible pathogenic variants from an Alamut output

Scripts and data processing notes for Russian exome sequencing AF paper

Note: This is a detailed Intro to this project. A brief users guide can be found at users_guide.md

Professional MCP server for FastQC and MultiQC quality control analysis with advanced visualization and report parsing

Analysis documentation for research into the variants associated with hyperparathyroidism. Illumina, germline, human, whole exome sequence (WES) data from the CCDHB.

Toll made with AI to help understanding DOTS in WES Pathways, thanks to Fibonacci. I use 23andme with ANNOVAR annotations files.