FRITZ SEDLAZECK to High-Throughput Nucleotide Sequencing
This is a "connection" page, showing publications FRITZ SEDLAZECK has written about High-Throughput Nucleotide Sequencing.
Connection Strength
7.810
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A Hitchhiker's Guide to long-read genomic analysis. Genome Res. 2025 04 14; 35(4):545-558.
Score: 0.614
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Unveiling microbial diversity: harnessing long-read sequencing technology. Nat Methods. 2024 Jun; 21(6):954-966.
Score: 0.575
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Utility of long-read sequencing for All of Us. Nat Commun. 2024 01 29; 15(1):837.
Score: 0.565
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Hidden biases in germline structural variant detection. Genome Biol. 2021 12 20; 22(1):347.
Score: 0.488
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PRINCESS: comprehensive detection of haplotype resolved SNVs, SVs, and methylation. Genome Biol. 2021 09 14; 22(1):268.
Score: 0.479
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Towards population-scale long-read sequencing. Nat Rev Genet. 2021 09; 22(9):572-587.
Score: 0.470
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Piercing the dark matter: bioinformatics of long-range sequencing and mapping. Nat Rev Genet. 2018 06; 19(6):329-346.
Score: 0.382
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Accurate detection of complex structural variations using single-molecule sequencing. Nat Methods. 2018 06; 15(6):461-468.
Score: 0.379
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Teaser: Individualized benchmarking and optimization of read mapping results for NGS data. Genome Biol. 2015 Oct 22; 16:235.
Score: 0.319
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NextGenMap: fast and accurate read mapping in highly polymorphic genomes. Bioinformatics. 2013 Nov 01; 29(21):2790-1.
Score: 0.274
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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: 0.261
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Assessing the readiness of Oxford Nanopore sequencing for clinical genomics applications. Genome Res. 2026 03 02; 36(3):460-471.
Score: 0.163
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Closing the gaps, and improving somatic structural variant analysis and benchmarking using CHM13-T2T. Genome Res. 2025 04 14; 35(4):621-631.
Score: 0.154
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Unraveling the hidden complexity of cancer through long-read sequencing. Genome Res. 2025 04 14; 35(4):599-620.
Score: 0.154
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K-mer analysis of long-read alignment pileups for structural variant genotyping. Nat Commun. 2025 Apr 04; 16(1):3218.
Score: 0.153
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Computational analysis of DNA methylation from long-read sequencing. Nat Rev Genet. 2025 Sep; 26(9):620-634.
Score: 0.153
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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: 0.146
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Detection of mosaic and population-level structural variants with Sniffles2. Nat Biotechnol. 2024 Oct; 42(10):1571-1580.
Score: 0.141
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FixItFelix: improving genomic analysis by fixing reference errors. Genome Biol. 2023 02 21; 24(1):31.
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: 0.132
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xAtlas: scalable small variant calling across heterogeneous next-generation sequencing experiments. Gigascience. 2022 12 28; 12.
Score: 0.131
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Truvari: refined structural variant comparison preserves allelic diversity. Genome Biol. 2022 12 27; 23(1):271.
Score: 0.131
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Vulcan: Improved long-read mapping and structural variant calling via dual-mode alignment. Gigascience. 2021 09 24; 10(9).
Score: 0.120
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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: 0.120
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Parliament2: Accurate structural variant calling at scale. Gigascience. 2020 12 21; 9(12).
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: 0.109
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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: 0.106
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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: 0.104
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Advanced methylome analysis after bisulfite deep sequencing: an example in Arabidopsis. PLoS One. 2012; 7(7):e41528.
Score: 0.064
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STRspy2.0: Unlocking the Potential of Long Reads for Forensic DNA Profiling. Int J Mol Sci. 2026 Feb 16; 27(4).
Score: 0.041
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Clair3-RNA: a deep learning-based small variant caller for long-read RNA sequencing data. Nat Commun. 2025 Dec 22; 16(1):11553.
Score: 0.040
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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 11 20; 34(11):2061-2073.
Score: 0.037
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The GIAB genomic stratifications resource for human reference genomes. Nat Commun. 2024 10 19; 15(1):9029.
Score: 0.037
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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: 0.037
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StratoMod: predicting sequencing and variant calling errors with interpretable machine learning. Commun Biol. 2024 10 13; 7(1):1316.
Score: 0.037
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Improved sequence mapping using a complete reference genome and lift-over. Nat Methods. 2024 Jan; 21(1):41-49.
Score: 0.035
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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: 0.035
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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: 0.034
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Variant calling and benchmarking in an era of complete human genome sequences. Nat Rev Genet. 2023 07; 24(7):464-483.
Score: 0.033
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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: 0.031
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Searching thousands of genomes to classify somatic and novel structural variants using STIX. Nat Methods. 2022 04; 19(4):445-448.
Score: 0.031
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Accelerated identification of disease-causing variants with ultra-rapid nanopore genome sequencing. Nat Biotechnol. 2022 07; 40(7):1035-1041.
Score: 0.031
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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: 0.031
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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: 0.031
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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: 0.030
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muCNV: Genotyping Structural Variants for Population-level Sequencing. Bioinformatics. 2021 08 04; 37(14):2055?2057.
Score: 0.029
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Targeted nanopore sequencing with Cas9-guided adapter ligation. Nat Biotechnol. 2020 04; 38(4):433-438.
Score: 0.027
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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: 0.025
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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
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The pineapple genome and the evolution of CAM photosynthesis. Nat Genet. 2015 Dec; 47(12):1435-42.
Score: 0.020