Articles with public access mandates - Medhat MahmoudLearn more
Available somewhere: 34
Accurate circular consensus long-read sequencing improves variant detection and assembly of a human genome
AM Wenger, P Peluso, WJ Rowell, PC Chang, RJ Hall, GT Concepcion, ...
Nature biotechnology 37 (10), 1155-1162, 2019
Mandates: US National Science Foundation, US National Institutes of Health, National …
Structural variant calling: the long and the short of it
M Mahmoud, N Gobet, DI Cruz-Dávalos, N Mounier, C Dessimoz, ...
Genome biology 20, 1-14, 2019
Mandates: Swiss National Science Foundation, US National Institutes of Health …
Chromosome-scale, haplotype-resolved assembly of human genomes
S Garg, A Fungtammasan, A Carroll, M Chou, A Schmitt, X Zhou, S Mac, ...
Nature biotechnology 39 (3), 309-312, 2021
Mandates: US National Institutes of Health
Curated variation benchmarks for challenging medically relevant autosomal genes
J Wagner, ND Olson, L Harris, J McDaniel, H Cheng, A Fungtammasan, ...
Nature biotechnology 40 (5), 672-680, 2022
Mandates: US National Institutes of Health, US National Aeronautics and Space …
Benchmarking challenging small variants with linked and long reads
J Wagner, ND Olson, L Harris, Z Khan, J Farek, M Mahmoud, A Stankovic, ...
Cell genomics 2 (5), 2022
Mandates: US National Institutes of Health, German Research Foundation, Federal …
Performance assessment of DNA sequencing platforms in the ABRF Next-Generation Sequencing Study
J Foox, SW Tighe, CM Nicolet, JM Zook, M Byrska-Bishop, WE Clarke, ...
Nature biotechnology 39 (9), 1129-1140, 2021
Mandates: Bill & Melinda Gates Foundation, US National Institutes of Health
Comprehensive structural variant detection: from mosaic to population-level
M Smolka, LF Paulin, CM Grochowski, DW Horner, M Mahmoud, ...
BioRxiv, 2022.04. 04.487055, 2022
Mandates: US National Institutes of Health, Michael J Fox Foundation
Parliament2: Accurate structural variant calling at scale
S Zarate, A Carroll, M Mahmoud, O Krasheninina, G Jun, WJ Salerno, ...
GigaScience 9 (12), giaa145, 2020
Mandates: US National Institutes of Health
Detection of mosaic and population-level structural variants with Sniffles2
M Smolka, LF Paulin, CM Grochowski, DW Horner, M Mahmoud, ...
Nature biotechnology, 1-10, 2024
Mandates: Michael J Fox Foundation
Beyond the exome: what’s next in diagnostic testing for Mendelian conditions
MH Wojcik, CM Reuter, S Marwaha, M Mahmoud, MH Duyzend, ...
The American Journal of Human Genetics 110 (8), 1229-1248, 2023
Mandates: US National Institutes of Health
SARS-CoV-2 genomic diversity and the implications for qRT-PCR diagnostics and transmission
N Sapoval, M Mahmoud, MD Jochum, Y Liu, RAL Elworth, Q Wang, ...
Genome research 31 (4), 635-644, 2021
Mandates: US Department of Defense, US National Institutes of Health, US National …
Intratumoral heterogeneity and clonal evolution induced by HPV integration
K Akagi, DE Symer, M Mahmoud, B Jiang, S Goodwin, D Wangsa, Z Li, ...
Cancer discovery 13 (4), 910-927, 2023
Mandates: US National Institutes of Health, Cancer Prevention Research Institute of …
PRINCESS: comprehensive detection of haplotype resolved SNVs, SVs, and methylation
M Mahmoud, H Doddapaneni, W Timp, FJ Sedlazeck
Genome biology 22, 1-17, 2021
Mandates: US National Institutes of Health
Rescuing low frequency variants within intra-host viral populations directly from Oxford Nanopore sequencing data
Y Liu, J Kearney, M Mahmoud, B Kille, FJ Sedlazeck, TJ Treangen
Nature communications 13 (1), 1321, 2022
Mandates: US National Science Foundation, US National Institutes of Health
Hidden genomic diversity of SARS-CoV-2: implications for qRT-PCR diagnostics and transmission
N Sapoval, M Mahmoud, MD Jochum, Y Liu, RAL Elworth, Q Wang, ...
BioRxiv, 2020
Mandates: US Department of Defense, US National Institutes of Health, US National …
Genome‐wide analysis of structural variants in Parkinson disease
KJ Billingsley, J Ding, PA Jerez, A Illarionova, K Levine, FP Grenn, ...
Annals of neurology 93 (5), 1012-1022, 2023
Mandates: US National Institutes of Health
Vulcan: Improved long-read mapping and structural variant calling via dual-mode alignment
Y Fu, M Mahmoud, VV Muraliraman, FJ Sedlazeck, TJ Treangen
GigaScience 10 (9), giab063, 2021
Mandates: US National Institutes of Health
A strategy for building and using a human reference pangenome
B Llamas, G Narzisi, V Schneider, PA Audano, E Biederstedt, L Blauvelt, ...
F1000Research 8, 2019
Mandates: US National Institutes of Health, Australian Research Council, Carlsberg …
Genomic variant benchmark: if you cannot measure it, you cannot improve it
S Majidian, DP Agustinho, CS Chin, FJ Sedlazeck, M Mahmoud
Genome Biology 24 (1), 221, 2023
Mandates: Swiss National Science Foundation
FixItFelix: improving genomic analysis by fixing reference errors
S Behera, J LeFaive, P Orchard, M Mahmoud, LF Paulin, J Farek, ...
Genome biology 24 (1), 31, 2023
Mandates: US National Institutes of Health
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