Computational Analysis of Regulatory Variation at the PKLR Locus in Normal and Sickle Cell Individuals Using Enformer

Zenodo (CERN European Organization for Nuclear Research) 2026 Open access

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Authors: Firdausi Muhammad, Aimola Idowu
DOI: 10.5281/zenodo.18928475
Cited by: 0

Abstract

This repository contains the computational analysis comparing predicted regulatory activity of the PKLR gene between normal individuals and sickle cell patients using the Enformer deep learning model. Data sourced from the 1000 Genomes Project YRI

Fields of Study & Subjects

Hemoglobinopathies and Related Disorders Genetic Associations and Epidemiology Genomics and Chromatin Dynamics

Publication details

Journal / source
Zenodo (CERN European Organization for Nuclear Research)
Publication date
9 March 2026
Language
EN