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Medhat Mahmoud

As seen in: Nature, Huawei Blog, Genome Biology, TechTarget, BioRxiv, Cell Press, medRxiv, Genome Research, Texas Medical Center, CIO Review and
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Articles

Long-read Sequences Mapped to a Complete Reference Genome Uncover Uncaptured Structural Variants across the Beta-globin Cluster in Africans with Sickle Cell Disease

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By Medhat Mahmoud, Yixing Han, Qing Li, Edmond Wonkam-Tingang, Nancy Hall Verified, Bamidele Tayo, Richard Cooper, George Ayodo, Stephen K. Obaro, Guillaume Lettre, Qing H. Meng, Shalini N. Jhangiani, R. Alan Harris, Kim C. Worley, Arang Rhie, Adam M. Phillippy, Fritz J Sedlazeck, Ambroise Wonkam, Neil A. Hanchard, Pamela Lurie, Aparna Haldipur, Natalie Asmus, Emilyn Banfield, Titilola Akingbola, Juyhun Kim
| Cell Press Verified
1Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, United States of America 2USDA/ARS Children’s Nutrition Research Center, Baylor College of Medicine, Houston, TX, United States of America 3Childhood Complex Disease Genomics Section, Center for Precision Health Research, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, United States of America 4Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX,...
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A Hitchhiker’s Guide to Long-Read Genomic Analysis

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By Medhat Mahmoud
| Texas Medical Center
10.1101/gr.279975.124 Post-print Humans, Genomics, Sequence Analysis, DNA, High-Throughput Nucleotide Sequencing, Genome, Human, Computational Biology, Molecular Sequence Annotation yes Medhat Mahmoud, Daniel P Agustinho, and Fritz J Sedlazeck, "A Hitchhiker’s Guide to Long-Read Genomic Analysis" (2025). Faculty and Staff Publications. 5117. https://digitalcommons.library.tmc.edu/baylor_docs/5117
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FixItFelix: Improving Genomic Analysis by Fixing Reference Errors

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By Sairam Behera, Jonathon LeFaive, Peter Orchard, Medhat Mahmoud
| Texas Medical Center
Keywords Humans, Genomics, Genome, Human, High-Throughput Nucleotide Sequencing, Sequence Analysis, DNA, Reference, GRCh38, T2T-CHM13, Variant, SNV, INDEL, Medically relevant genes, Remapping, GIAB, eQTL Abstract The current version of the human reference genome, GRCh38, contains a number of errors including 1.2 Mbp of falsely duplicated and 8.04 Mbp of collapsed regions. These errors impact the variant calling of 33 protein-coding genes, including 12 with medical relevance.
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