Author

Joseph Mafofo

ORCID 0000-0003-1964-1708Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Bioinformatics· 2 Genetic & Genomic Medicine· 2

Signature Assays, Organisms & Methods

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Organism:human· 3 Approach:statistical model· 3 Research Focus:variant calling· 3 Assay:whole-genome sequencing· 3 Approach:deep learning· 1 Assay:long-read sequencing· 1 Research Focus:variant effect prediction· 1

Frequent Co-Authors

Ayesha Al Ali· 3 shared Gurunath Katagi· 3 shared Javier QuileziD· 3 shared Tiago R. MagalhãesiD· 3 shared Vinay KusumaiD· 3 shared Albarah El-Khani· 2 shared Azza Attia· 2 shared Fahed Al Marzooqi· 2 shared

Activity by Year

2020-2026 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

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3 shared papersGenetic & Genomic Medicine

Ayesha Al Ali

Mutual co-authors in cluster

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4 papers

Recent·Most cited

Genetic & Genomic MedicineGenome ResearchPeer-reviewedMar 1, 2026

Assessing the readiness of Oxford Nanopore sequencing for clinical genomics applications

Judith Arres, Santosh Elavalli, Shalini Behl…·Javier Quilez

This study evaluates Oxford Nanopore sequencing's performance in clinical genomics using reference samples, showing high accuracy for SNVs and SVs but challenges with INDELs and CNVs.

5 citations

humanwhole-genome sequencing

𝕏 PostBluesky

Genetic & Genomic MedicinemedRxivPreprintOct 14, 2025

Pathogenicity Reassessment and Novel Variant Discovery in Inherited Retinal Disease through Population-Scale Genomics in the United Arab Emirates

Budour Alkaf, Wadha Mohammed Abdulrahman, Sahar Al Marzooqi…·Tiago R. Magalhães

The paper reassesses pathogenicity of variants in inherited retinal diseases using population-scale genomics in the UAE, identifying clinically relevant variants and highlighting discrepancies between clinical and population-based classifications.

4 citations

humanwhole-genome sequencing

𝕏 PostBluesky

BioinformaticsbioRxivPreprintDec 21, 2022

CRAM compression: practical across-technologies considerations for large-scale sequencing projects

Ayesha Al Ali, Palani Kannan Kandavel, Hakeem Al Mabrazi…·Javier Quilez

The paper evaluates CRAM compression performance across different sequencing technologies for the Emirati Genome Program, finding 40-70% compression with no data loss.

DOI 10.1101/2022.12.21.521516

humanwhole-genome sequencing

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BioinformaticsbioRxivPreprintOct 8, 2020

Fast-Bonito: A Faster Basecaller for Nanopore Sequencing

Zhimeng Xu, Yuting Mai, Denghui Liu…·Nan Qiao

Fast-Bonito improves the speed of nanopore sequencing basecalling while maintaining or slightly improving accuracy compared to the original Bonito.

7 citations

long-read sequencingdeep learning

𝕏 PostBluesky