Medhat Mahmoud - Baylor College of Medicine Human Genome Sequencing Center

基本信息

Career Trajectory

Bio

Medhat currently works at the Baylor College of Medicine, Human Genome Sequencing Center. I'm interested in comparative genomics, genomics variations, including structural and single nucleotide variations besides building software and frameworks for a comprehensive understanding of variants. I have extensive experience in second and third-generation sequencing.

Research Interests

Papers共 56 篇Author StatisticsCo-AuthorSimilar Experts

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Closing the Gap: Solving Complex Medically Relevant Genes at Scale

medRxiv the preprint server for health sciences (2024)

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MethPhaser: Methylation-Based Long-Read Haplotype Phasing of Human Genomes

Yilei Fu,Sergey Aganezov,Medhat Mahmoud,John Beaulaurier,Sissel Juul,Todd J. Treangen,Fritz J. Sedlazeck

Nature Communicationsno. 1 (2024)

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Mind the gap: the relevance of the genome reference to resolve rare and pathogenic inversions

Kristine Bilgrav Saether,Jesper Eisfeldt,Jesse Bengtsson,Ming Yin Lun,Christopher M Grochowski,Medhat Mahmoud,Hsiao-Tuan Chao,Jill A Rosenfeld,Pengfei Liu,Jakob Schuy,Adam Ameur,Undiagnosed Diseases Network, James Paul Hwang,Fritz J Sedlazeck,Weimin Bi,Ronit Marom,Ann Nordgren,Claudia M B Carvalho,Anna Lindstrand

medRxiv : the preprint server for health sciences (2024)

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Utility of Long-Read Sequencing for All of Us

M. Mahmoud, Y. Huang,K. Garimella,P. A. Audano, W. Wan,N. Prasad,R. E. Handsaker,S. Hall, A. Pionzio,M. C. Schatz,M. E. Talkowski,E. E. Eichler,S. E. Levy,F. J. Sedlazeck

NATURE COMMUNICATIONSno. 1 (2024)

Cited10Views0WOSNATUREBibtex

Leveraging the T2T Assembly to Resolve Rare and Pathogenic Inversions in Reference Genome Gaps

GENOME RESEARCHno. 11 (2024): 1785-1797

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Detection of Mosaic and Population-Level Structural Variants with Sniffles2

Moritz Smolka,Luis F. Paulin,Christopher M. Grochowski, Dominic W. Horner,Medhat Mahmoud,Sairam Behera, Ester Kalef-Ezra,Mira Gandhi,Karl Hong,Davut Pehlivan,Sonja W. Scholz,Claudia M. B. Carvalho,Christos Proukakis,Fritz J. Sedlazeck

NATURE BIOTECHNOLOGY (2024)

Cited14Views0WOSNATUREBibtex

Genomic Variant Benchmark: if You Cannot Measure It, You Cannot Improve It

Sina Majidian,Daniel Paiva Agustinho,Chen-Shan Chin,Fritz J. Sedlazeck,Medhat Mahmoud

Genome Biologyno. 1 (2023)

Cited1Views0WOSBibtex

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