Automating WES Data analysis (primarily of Cancer).
-
Updated
Nov 28, 2023 - C
Automating WES Data analysis (primarily of Cancer).
END OF MASTER'S PROJECT: Valencian International University VIU
WES pipeline with customizable scoring system based on 10 criteria.
Code and variants to generate results published in Waller RG et al, Hum Mol Genet, 2021.
Analysis documentation for research into the variants associated with hyperparathyroidism. Illumina, germline, human, whole exome sequence (WES) data from the CCDHB.
esohinformatics
📑 A library of example code -aka cheatsheets- for tools I use or analyses I carry out pretty often. This repo doubles as an easy way to find the code I need without going through all my scripts.
Bio Big Data and Precision Medicine Training Course
An open-source and scalable solution to NGS analysis powered by the NIH's Biowulf cluster.
WDL-based pipelines
Discover VNTR-associated DELs that are hard to find using Illumina reads
An app for automatically functionally annotating the variants of whole-genome/whole-exome sequencing (WGS/WES) studies and integrating the functional annotations with the genotype data using FAVORannotator in UK Biobank RAP
Research projects conducted at the GeneMAP Research Center
Scripts and data processing notes for Russian exome sequencing AF paper
STAR-NN: A deep neural network model to predict the risk of ASD using whole exome sequencing dataset
Analyses and figures related to Mossanen and Carvalho et al Eur Urol 2021 manuscript entitled "Genomic Features of Muscle-Invasive Bladder Cancer Arising After Prostate Radiotherapy"
Code and resources for bioinformatics analyses I've done.
An adaptable method for analyzing SNVs, INDELs, and CNVs from Whole Exome Sequencing (WES) data, emphasizing germline variants.
Whole Exome Sequencing end-to-end pipeline. Starting from whole exome fastq files: Data QC, Adapter Trimming, Reference Genome Alignment, SAM/BAM Validation, Data Recalibration and Variant Calling.
Add a description, image, and links to the whole-exome-sequencing topic page so that developers can more easily learn about it.
To associate your repository with the whole-exome-sequencing topic, visit your repo's landing page and select "manage topics."