WES pipeline with customizable scoring system based on 10 criteria.
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Updated
Apr 9, 2023 - Python
WES pipeline with customizable scoring system based on 10 criteria.
END OF MASTER'S PROJECT: Valencian International University VIU
Research projects conducted at the GeneMAP Research Center
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.
Automating WES Data analysis (primarily of Cancer).
Bio Big Data and Precision Medicine Training Course
STAR-NN: A deep neural network model to predict the risk of ASD using whole exome sequencing dataset
Code and resources for bioinformatics analyses I've done.
Analysis of paired tumor-normal whole exome sequencing data generated in a pilot open-access study of participants in Texas.
Genetic Medicine of African Populations
An automated tool for processing whole-exome sequencing data
Code and variants to generate results published in Waller RG et al, Hum Mol Genet, 2021.
Discover VNTR-associated DELs that are hard to find using Illumina reads
Scripts and data processing notes for Russian exome sequencing AF paper
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"
An adaptable method for analyzing SNVs, INDELs, and CNVs from Whole Exome Sequencing (WES) data, emphasizing germline variants.
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