FRITZ SEDLAZECK to Sequence Analysis, DNA
This is a "connection" page, showing publications FRITZ SEDLAZECK has written about Sequence Analysis, DNA.
Connection Strength
4.921
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PRINCESS: comprehensive detection of haplotype resolved SNVs, SVs, and methylation. Genome Biol. 2021 09 14; 22(1):268.
Score: 0.497
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Towards population-scale long-read sequencing. Nat Rev Genet. 2021 09; 22(9):572-587.
Score: 0.486
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Accurate detection of complex structural variations using single-molecule sequencing. Nat Methods. 2018 06; 15(6):461-468.
Score: 0.393
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Updating benchtop sequencing performance comparison. Nat Biotechnol. 2013 Apr; 31(4):294-6.
Score: 0.276
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Benefit-of-doubt (BOD) scoring: a sequencing-based method for SNP candidate assessment from high to medium read number data sets. Genomics. 2013 Mar; 101(3):204-9.
Score: 0.271
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Unveiling microbial diversity: harnessing long-read sequencing technology. Nat Methods. 2024 Jun; 21(6):954-966.
Score: 0.149
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Utility of long-read sequencing for All of Us. Nat Commun. 2024 Jan 29; 15(1):837.
Score: 0.146
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Detection of mosaic and population-level structural variants with Sniffles2. Nat Biotechnol. 2024 Oct; 42(10):1571-1580.
Score: 0.146
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The complete sequence of a human Y chromosome. Nature. 2023 Sep; 621(7978):344-354.
Score: 0.142
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FixItFelix: improving genomic analysis by fixing reference errors. Genome Biol. 2023 02 21; 24(1):31.
Score: 0.137
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A complete reference genome improves analysis of human genetic variation. Science. 2022 04; 376(6588):eabl3533.
Score: 0.129
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The complete sequence of a human genome. Science. 2022 04; 376(6588):44-53.
Score: 0.129
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Hidden biases in germline structural variant detection. Genome Biol. 2021 12 20; 22(1):347.
Score: 0.126
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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: 0.124
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Oligonucleotide capture sequencing of the SARS-CoV-2 genome and subgenomic fragments from COVID-19 individuals. PLoS One. 2021; 16(8):e0244468.
Score: 0.124
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Optimized sample selection for cost-efficient long-read population sequencing. Genome Res. 2021 05; 31(5):910-918.
Score: 0.120
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Complex mosaic structural variations in human fetal brains. Genome Res. 2020 12; 30(12):1695-1704.
Score: 0.117
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PhaseME: Automatic rapid assessment of phasing quality and phasing improvement. Gigascience. 2020 07 01; 9(7).
Score: 0.114
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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: 0.113
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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: 0.110
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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: 0.107
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Evaluation of the detection of GBA missense mutations and other variants using the Oxford Nanopore MinION. Mol Genet Genomic Med. 2019 03; 7(3):e564.
Score: 0.103
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GenomeScope: fast reference-free genome profiling from short reads. Bioinformatics. 2017 Jul 15; 33(14):2202-2204.
Score: 0.093
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Advanced methylome analysis after bisulfite deep sequencing: an example in Arabidopsis. PLoS One. 2012; 7(7):e41528.
Score: 0.066
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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: 0.039
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The GIAB genomic stratifications resource for human reference genomes. Nat Commun. 2024 Oct 19; 15(1):9029.
Score: 0.038
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Long-read sequencing of an advanced cancer cohort resolves rearrangements, unravels haplotypes, and reveals methylation landscapes. Cell Genom. 2024 Nov 13; 4(11):100674.
Score: 0.038
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StratoMod: predicting sequencing and variant calling errors with interpretable machine learning. Commun Biol. 2024 Oct 13; 7(1):1316.
Score: 0.038
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Characterization and visualization of tandem repeats at genome scale. Nat Biotechnol. 2024 Oct; 42(10):1606-1614.
Score: 0.036
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Improved sequence mapping using a complete reference genome and lift-over. Nat Methods. 2024 Jan; 21(1):41-49.
Score: 0.036
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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: 0.036
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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: 0.035
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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: 0.035
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Curated variation benchmarks for challenging medically relevant autosomal genes. Nat Biotechnol. 2022 05; 40(5):672-680.
Score: 0.032
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Ultrarapid Nanopore Genome Sequencing in a Critical Care Setting. N Engl J Med. 2022 02 17; 386(7):700-702.
Score: 0.032
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Accurate profiling of forensic autosomal STRs using the Oxford Nanopore Technologies MinION device. Forensic Sci Int Genet. 2022 01; 56:102629.
Score: 0.031
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Vulcan: Improved long-read mapping and structural variant calling via dual-mode alignment. Gigascience. 2021 09 24; 10(9).
Score: 0.031
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muCNV: Genotyping Structural Variants for Population-level Sequencing. Bioinformatics. 2021 08 04; 37(14):2055?2057.
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: 0.029
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Discovery and population genomics of structural variation in a songbird genus. Nat Commun. 2020 07 07; 11(1):3403.
Score: 0.029
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A robust benchmark for detection of germline large deletions and insertions. Nat Biotechnol. 2020 11; 38(11):1347-1355.
Score: 0.028
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Targeted nanopore sequencing with Cas9-guided adapter ligation. Nat Biotechnol. 2020 04; 38(4):433-438.
Score: 0.028
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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: 0.026
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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: 0.026
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Megabase Length Hypermutation Accompanies Human Structural Variation at 17p11.2. Cell. 2019 03 07; 176(6):1310-1324.e10.
Score: 0.026
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Phased diploid genome assembly with single-molecule real-time sequencing. Nat Methods. 2016 Dec; 13(12):1050-1054.
Score: 0.022