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mjbetti's Projects

core-bed icon core-bed

A framework for predicting cell and tissue type-specific functional class across the human genome.

erna-grex icon erna-grex

Code and associated documentation from "Genetically regulated enhancer RNA expression predicts enhancer-promoter contact frequency and reveals genetic mechanisms at trait-associated loci" by Betti et al.

gwas-tools icon gwas-tools

A set of miscellaneous tools for GWAS data processing and annotation.

iges2023 icon iges2023

Code from lung cancer histology classification analyses presented at IGES 2023.

prs-pgs-calculator icon prs-pgs-calculator

A set of scripts and accompanying instruction for how to compute PRS across all scores in the PGS Catalog and calculate risk percentile relative to gnomAD samples.

qqman icon qqman

An R package for creating Q-Q and manhattan plots from GWAS results

roger_hi-c_processing_pipeline icon roger_hi-c_processing_pipeline

A basic workflow to generate a processed .hic matrix of 3D genome contacts from unaligned raw reads (FASTQs). Based roughly off of the Hi-C processing guidelines specified by the 4D Nucleome Data Coordination and Integration Center (https://data.4dnucleome.org/resources/data-analysis/hi_c-processing-pipeline).

wgs-processing-pipeline icon wgs-processing-pipeline

A bioinformatics pipeline for performing sequence alignment and variant calling using short-read whole genome sequencing data.

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