Co-Authors
This is a "connection" page, showing publications co-authored by MEDHAT MAHMOUD and FRITZ SEDLAZECK.
Connection Strength
5.065
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Closing the gap: Solving complex medically relevant genes at scale. medRxiv. 2024 Mar 18.
Score: 0.953
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PRINCESS: comprehensive detection of haplotype resolved SNVs, SVs, and methylation. Genome Biol. 2021 09 14; 22(1):268.
Score: 0.801
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Identification of allele-specific KIV-2 repeats and impact on Lp(a) measurements for cardiovascular disease risk. BMC Med Genomics. 2024 10 24; 17(1):255.
Score: 0.248
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Publisher Correction: Detection of mosaic and population-level structural variants with Sniffles2. Nat Biotechnol. 2024 Oct; 42(10):1616.
Score: 0.247
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MethPhaser: methylation-based long-read haplotype phasing of human genomes. Nat Commun. 2024 Jun 22; 15(1):5327.
Score: 0.243
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Detection of mosaic and population-level structural variants with Sniffles2. Nat Biotechnol. 2024 Oct; 42(10):1571-1580.
Score: 0.235
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Genomic variant benchmark: if you cannot measure it, you cannot improve it. Genome Biol. 2023 10 05; 24(1):221.
Score: 0.231
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FixItFelix: improving genomic analysis by fixing reference errors. Genome Biol. 2023 02 21; 24(1):31.
Score: 0.221
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Fully resolved assembly of Cryptosporidium parvum. Gigascience. 2022 02 15; 11.
Score: 0.206
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Parliament2: Accurate structural variant calling at scale. Gigascience. 2020 12 21; 9(12).
Score: 0.190
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Structural variant calling: the long and the short of it. Genome Biol. 2019 11 20; 20(1):246.
Score: 0.177
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Leveraging the T2T assembly to resolve rare and pathogenic inversions in reference genome gaps. Genome Res. 2024 Nov 20; 34(11):1785-1797.
Score: 0.062
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Characterizing a complex CT-rich haplotype in intron 4 of SNCA using large-scale targeted amplicon long-read sequencing. NPJ Parkinsons Dis. 2024 Jul 26; 10(1):136.
Score: 0.061
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Inverted triplications formed by iterative template switches generate structural variant diversity at genomic disorder loci. Cell Genom. 2024 Jul 10; 4(7):100590.
Score: 0.061
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Mind the gap: the relevance of the genome reference to resolve rare and pathogenic inversions. medRxiv. 2024 Apr 24.
Score: 0.060
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Break-induced replication underlies formation of inverted triplications and generates unexpected diversity in haplotype structures. bioRxiv. 2023 Oct 03.
Score: 0.058
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Beyond the exome: What's next in diagnostic testing for Mendelian conditions. Am J Hum Genet. 2023 08 03; 110(8):1229-1248.
Score: 0.057
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Intratumoral Heterogeneity and Clonal Evolution Induced by HPV Integration. Cancer Discov. 2023 04 03; 13(4):910-927.
Score: 0.056
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Genome-Wide Analysis of Structural Variants in Parkinson Disease. Ann Neurol. 2023 05; 93(5):1012-1022.
Score: 0.055
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Beyond the exome: what's next in diagnostic testing for Mendelian conditions. ArXiv. 2023 Jan 18.
Score: 0.055
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Long read sequencing and expression studies of AHDC1 deletions in Xia-Gibbs syndrome reveal a novel genetic regulatory mechanism. Hum Mutat. 2022 12; 43(12):2033-2053.
Score: 0.054
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Construction of a new chromosome-scale, long-read reference genome assembly for the Syrian hamster, Mesocricetus auratus. Gigascience. 2022 05 28; 11.
Score: 0.053
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The third international hackathon for applying insights into large-scale genomic composition to use cases in a wide range of organisms. F1000Res. 2022; 11:530.
Score: 0.052
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Benchmarking challenging small variants with linked and long reads. Cell Genom. 2022 May; 2(5).
Score: 0.052
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Rescuing low frequency variants within intra-host viral populations directly from Oxford Nanopore sequencing data. Nat Commun. 2022 03 14; 13(1):1321.
Score: 0.052
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Curated variation benchmarks for challenging medically relevant autosomal genes. Nat Biotechnol. 2022 05; 40(5):672-680.
Score: 0.051
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Author Correction: Performance assessment of DNA sequencing platforms in the ABRF Next-Generation Sequencing Study. Nat Biotechnol. 2021 Nov; 39(11):1466.
Score: 0.051
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Vulcan: Improved long-read mapping and structural variant calling via dual-mode alignment. Gigascience. 2021 09 24; 10(9).
Score: 0.050
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Performance assessment of DNA sequencing platforms in the ABRF Next-Generation Sequencing Study. Nat Biotechnol. 2021 09; 39(9):1129-1140.
Score: 0.050
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Rescuing Low Frequency Variants within Intra-Host Viral Populations directly from Oxford Nanopore sequencing data. bioRxiv. 2021 Sep 06.
Score: 0.050
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SARS-CoV-2 genomic diversity and the implications for qRT-PCR diagnostics and transmission. Genome Res. 2021 04; 31(4):635-644.
Score: 0.048
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Chromosome-scale, haplotype-resolved assembly of human genomes. Nat Biotechnol. 2021 03; 39(3):309-312.
Score: 0.047
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Hidden genomic diversity of SARS-CoV-2: implications for qRT-PCR diagnostics and transmission. bioRxiv. 2020 Jul 02.
Score: 0.046
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Approaches to Whole Mitochondrial Genome Sequencing on the Oxford Nanopore MinION. Curr Protoc Hum Genet. 2019 12; 104(1):e94.
Score: 0.044
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A strategy for building and using a human reference pangenome. F1000Res. 2019; 8:1751.
Score: 0.044
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Accurate circular consensus long-read sequencing improves variant detection and assembly of a human genome. Nat Biotechnol. 2019 10; 37(10):1155-1162.
Score: 0.043