FRITZ SEDLAZECK to Genome, Human
This is a "connection" page, showing publications FRITZ SEDLAZECK has written about Genome, Human.
Connection Strength
5.995
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Impact and characterization of serial structural variations across humans and great apes. Nat Commun. 2024 Sep 13; 15(1):8007.
Score: 0.582
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MethPhaser: methylation-based long-read haplotype phasing of human genomes. Nat Commun. 2024 Jun 22; 15(1):5327.
Score: 0.573
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FixItFelix: improving genomic analysis by fixing reference errors. Genome Biol. 2023 02 21; 24(1):31.
Score: 0.523
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Towards population-scale long-read sequencing. Nat Rev Genet. 2021 09; 22(9):572-587.
Score: 0.463
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Optimized sample selection for cost-efficient long-read population sequencing. Genome Res. 2021 05; 31(5):910-918.
Score: 0.458
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High-coverage nanopore sequencing of samples from the 1000 Genomes Project to build a comprehensive catalog of human genetic variation. Genome Res. 2024 Nov 20; 34(11):2061-2073.
Score: 0.147
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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: 0.147
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The GIAB genomic stratifications resource for human reference genomes. Nat Commun. 2024 Oct 19; 15(1):9029.
Score: 0.147
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Single-cell somatic copy number variants in brain using different amplification methods and reference genomes. Commun Biol. 2024 Oct 09; 7(1):1288.
Score: 0.146
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Unveiling novel genetic variants in 370 challenging medically relevant genes using the long read sequencing data of 41 samples from 19 global populations. Mol Genet Genomics. 2024 Jul 07; 299(1):65.
Score: 0.144
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Utility of long-read sequencing for All of Us. Nat Commun. 2024 Jan 29; 15(1):837.
Score: 0.139
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Scalable Nanopore sequencing of human genomes provides a comprehensive view of haplotype-resolved variation and methylation. Nat Methods. 2023 10; 20(10):1483-1492.
Score: 0.136
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Multiscale analysis of pangenomes enables improved representation of genomic diversity for repetitive and clinically relevant genes. Nat Methods. 2023 08; 20(8):1213-1221.
Score: 0.134
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Variant calling and benchmarking in an era of complete human genome sequences. Nat Rev Genet. 2023 Jul; 24(7):464-483.
Score: 0.132
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SVhound: detection of regions that harbor yet undetected structural variation. BMC Bioinformatics. 2023 Jan 20; 24(1):23.
Score: 0.130
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Truvari: refined structural variant comparison preserves allelic diversity. Genome Biol. 2022 12 27; 23(1):271.
Score: 0.129
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Multiple genome alignment in the telomere-to-telomere assembly era. Genome Biol. 2022 08 29; 23(1):182.
Score: 0.126
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A complete reference genome improves analysis of human genetic variation. Science. 2022 04; 376(6588):eabl3533.
Score: 0.123
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The complete sequence of a human genome. Science. 2022 04; 376(6588):44-53.
Score: 0.123
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Curated variation benchmarks for challenging medically relevant autosomal genes. Nat Biotechnol. 2022 05; 40(5):672-680.
Score: 0.122
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Assessing reproducibility of inherited variants detected with short-read whole genome sequencing. Genome Biol. 2022 01 03; 23(1):2.
Score: 0.121
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PRINCESS: comprehensive detection of haplotype resolved SNVs, SVs, and methylation. Genome Biol. 2021 09 14; 22(1):268.
Score: 0.118
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Parliament2: Accurate structural variant calling at scale. Gigascience. 2020 12 21; 9(12).
Score: 0.112
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Chromosome-scale, haplotype-resolved assembly of human genomes. Nat Biotechnol. 2021 03; 39(3):309-312.
Score: 0.112
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Nanopore sequencing and the Shasta toolkit enable efficient de novo assembly of eleven human genomes. Nat Biotechnol. 2020 09; 38(9):1044-1053.
Score: 0.108
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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: 0.102
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Atlas-CNV: a validated approach to call single-exon CNVs in the eMERGESeq gene panel. Genet Med. 2019 09; 21(9):2135-2144.
Score: 0.100
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A multi-task convolutional deep neural network for variant calling in single molecule sequencing. Nat Commun. 2019 03 01; 10(1):998.
Score: 0.099
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Accurate detection of complex structural variations using single-molecule sequencing. Nat Methods. 2018 06; 15(6):461-468.
Score: 0.094
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Long-read sequencing of 945 Han individuals identifies structural variants associated with phenotypic diversity and disease susceptibility. Nat Commun. 2025 Feb 10; 16(1):1494.
Score: 0.037
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Small variant benchmark from a complete assembly of X and Y chromosomes. Nat Commun. 2025 Jan 08; 16(1):497.
Score: 0.037
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StratoMod: predicting sequencing and variant calling errors with interpretable machine learning. Commun Biol. 2024 Oct 13; 7(1):1316.
Score: 0.037
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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: 0.036
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Characterization and visualization of tandem repeats at genome scale. Nat Biotechnol. 2024 Oct; 42(10):1606-1614.
Score: 0.035
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Genome-Wide Analysis of Structural Variants in Parkinson Disease. Ann Neurol. 2023 05; 93(5):1012-1022.
Score: 0.033
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Vulcan: Improved long-read mapping and structural variant calling via dual-mode alignment. Gigascience. 2021 09 24; 10(9).
Score: 0.030
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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: 0.030
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Simultaneous profiling of chromatin accessibility and methylation on human cell lines with nanopore sequencing. Nat Methods. 2020 12; 17(12):1191-1199.
Score: 0.028
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A diploid assembly-based benchmark for variants in the major histocompatibility complex. Nat Commun. 2020 09 22; 11(1):4794.
Score: 0.028
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Paragraph: a graph-based structural variant genotyper for short-read sequence data. Genome Biol. 2019 12 19; 20(1):291.
Score: 0.026
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Megabase Length Hypermutation Accompanies Human Structural Variation at 17p11.2. Cell. 2019 03 07; 176(6):1310-1324.e10.
Score: 0.025
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Complex rearrangements and oncogene amplifications revealed by long-read DNA and RNA sequencing of a breast cancer cell line. Genome Res. 2018 08; 28(8):1126-1135.
Score: 0.024