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FRITZ SEDLAZECK to Sequence Analysis, DNA

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This is a "connection" page, showing publications FRITZ SEDLAZECK has written about Sequence Analysis, DNA.
FRITZ SEDLAZECK
Connection Strength
6.677
Sequence Analysis, DNA
  1. A Hitchhiker's Guide to long-read genomic analysis. Genome Res. 2025 Apr 14; 35(4):545-558.
    View in: PubMed
    Score: 0.597
  2. Computational analysis of DNA methylation from long-read sequencing. Nat Rev Genet. 2025 Sep; 26(9):620-634.
    View in: PubMed
    Score: 0.595
  3. Unveiling microbial diversity: harnessing long-read sequencing technology. Nat Methods. 2024 Jun; 21(6):954-966.
    View in: PubMed
    Score: 0.559
  4. PRINCESS: comprehensive detection of haplotype resolved SNVs, SVs, and methylation. Genome Biol. 2021 09 14; 22(1):268.
    View in: PubMed
    Score: 0.466
  5. Towards population-scale long-read sequencing. Nat Rev Genet. 2021 09; 22(9):572-587.
    View in: PubMed
    Score: 0.456
  6. Accurate detection of complex structural variations using single-molecule sequencing. Nat Methods. 2018 06; 15(6):461-468.
    View in: PubMed
    Score: 0.369
  7. Updating benchtop sequencing performance comparison. Nat Biotechnol. 2013 Apr; 31(4):294-6.
    View in: PubMed
    Score: 0.259
  8. 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.
    View in: PubMed
    Score: 0.254
  9. Closing the gaps, and improving somatic structural variant analysis and benchmarking using CHM13-T2T. Genome Res. 2025 Apr 14; 35(4):621-631.
    View in: PubMed
    Score: 0.149
  10. Unraveling the hidden complexity of cancer through long-read sequencing. Genome Res. 2025 Apr 14; 35(4):599-620.
    View in: PubMed
    Score: 0.149
  11. K-mer analysis of long-read alignment pileups for structural variant genotyping. Nat Commun. 2025 Apr 04; 16(1):3218.
    View in: PubMed
    Score: 0.149
  12. Utility of long-read sequencing for All of Us. Nat Commun. 2024 Jan 29; 15(1):837.
    View in: PubMed
    Score: 0.137
  13. Detection of mosaic and population-level structural variants with Sniffles2. Nat Biotechnol. 2024 Oct; 42(10):1571-1580.
    View in: PubMed
    Score: 0.137
  14. The complete sequence of a human Y chromosome. Nature. 2023 09; 621(7978):344-354.
    View in: PubMed
    Score: 0.133
  15. FixItFelix: improving genomic analysis by fixing reference errors. Genome Biol. 2023 02 21; 24(1):31.
    View in: PubMed
    Score: 0.129
  16. A complete reference genome improves analysis of human genetic variation. Science. 2022 04; 376(6588):eabl3533.
    View in: PubMed
    Score: 0.121
  17. The complete sequence of a human genome. Science. 2022 04; 376(6588):44-53.
    View in: PubMed
    Score: 0.121
  18. Hidden biases in germline structural variant detection. Genome Biol. 2021 12 20; 22(1):347.
    View in: PubMed
    Score: 0.119
  19. Performance assessment of DNA sequencing platforms in the ABRF Next-Generation Sequencing Study. Nat Biotechnol. 2021 09; 39(9):1129-1140.
    View in: PubMed
    Score: 0.116
  20. Oligonucleotide capture sequencing of the SARS-CoV-2 genome and subgenomic fragments from COVID-19 individuals. PLoS One. 2021; 16(8):e0244468.
    View in: PubMed
    Score: 0.116
  21. Optimized sample selection for cost-efficient long-read population sequencing. Genome Res. 2021 05; 31(5):910-918.
    View in: PubMed
    Score: 0.113
  22. Complex mosaic structural variations in human fetal brains. Genome Res. 2020 12; 30(12):1695-1704.
    View in: PubMed
    Score: 0.110
  23. PhaseME: Automatic rapid assessment of phasing quality and phasing improvement. Gigascience. 2020 07 01; 9(7).
    View in: PubMed
    Score: 0.107
  24. Nanopore sequencing and the Shasta toolkit enable efficient de novo assembly of eleven human genomes. Nat Biotechnol. 2020 09; 38(9):1044-1053.
    View in: PubMed
    Score: 0.106
  25. Approaches to Whole Mitochondrial Genome Sequencing on the Oxford Nanopore MinION. Curr Protoc Hum Genet. 2019 12; 104(1):e94.
    View in: PubMed
    Score: 0.103
  26. Accurate circular consensus long-read sequencing improves variant detection and assembly of a human genome. Nat Biotechnol. 2019 10; 37(10):1155-1162.
    View in: PubMed
    Score: 0.101
  27. 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.
    View in: PubMed
    Score: 0.097
  28. GenomeScope: fast reference-free genome profiling from short reads. Bioinformatics. 2017 Jul 15; 33(14):2202-2204.
    View in: PubMed
    Score: 0.087
  29. Advanced methylome analysis after bisulfite deep sequencing: an example in Arabidopsis. PLoS One. 2012; 7(7):e41528.
    View in: PubMed
    Score: 0.062
  30. 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.
    View in: PubMed
    Score: 0.036
  31. The GIAB genomic stratifications resource for human reference genomes. Nat Commun. 2024 10 19; 15(1):9029.
    View in: PubMed
    Score: 0.036
  32. Long-read sequencing of an advanced cancer cohort resolves rearrangements, unravels haplotypes, and reveals methylation landscapes. Cell Genom. 2024 Nov 13; 4(11):100674.
    View in: PubMed
    Score: 0.036
  33. StratoMod: predicting sequencing and variant calling errors with interpretable machine learning. Commun Biol. 2024 Oct 13; 7(1):1316.
    View in: PubMed
    Score: 0.036
  34. Characterization and visualization of tandem repeats at genome scale. Nat Biotechnol. 2024 Oct; 42(10):1606-1614.
    View in: PubMed
    Score: 0.034
  35. Improved sequence mapping using a complete reference genome and lift-over. Nat Methods. 2024 Jan; 21(1):41-49.
    View in: PubMed
    Score: 0.034
  36. Scalable Nanopore sequencing of human genomes provides a comprehensive view of haplotype-resolved variation and methylation. Nat Methods. 2023 10; 20(10):1483-1492.
    View in: PubMed
    Score: 0.033
  37. Beyond the exome: What's next in diagnostic testing for Mendelian conditions. Am J Hum Genet. 2023 08 03; 110(8):1229-1248.
    View in: PubMed
    Score: 0.033
  38. Variant calling and benchmarking in an era of complete human genome sequences. Nat Rev Genet. 2023 07; 24(7):464-483.
    View in: PubMed
    Score: 0.032
  39. Curated variation benchmarks for challenging medically relevant autosomal genes. Nat Biotechnol. 2022 05; 40(5):672-680.
    View in: PubMed
    Score: 0.030
  40. Ultrarapid Nanopore Genome Sequencing in a Critical Care Setting. N Engl J Med. 2022 02 17; 386(7):700-702.
    View in: PubMed
    Score: 0.030
  41. Accurate profiling of forensic autosomal STRs using the Oxford Nanopore Technologies MinION device. Forensic Sci Int Genet. 2022 01; 56:102629.
    View in: PubMed
    Score: 0.029
  42. Vulcan: Improved long-read mapping and structural variant calling via dual-mode alignment. Gigascience. 2021 09 24; 10(9).
    View in: PubMed
    Score: 0.029
  43. muCNV: Genotyping Structural Variants for Population-level Sequencing. Bioinformatics. 2021 08 04; 37(14):2055?2057.
    View in: PubMed
    Score: 0.028
  44. Simultaneous profiling of chromatin accessibility and methylation on human cell lines with nanopore sequencing. Nat Methods. 2020 12; 17(12):1191-1199.
    View in: PubMed
    Score: 0.028
  45. Discovery and population genomics of structural variation in a songbird genus. Nat Commun. 2020 07 07; 11(1):3403.
    View in: PubMed
    Score: 0.027
  46. A robust benchmark for detection of germline large deletions and insertions. Nat Biotechnol. 2020 11; 38(11):1347-1355.
    View in: PubMed
    Score: 0.027
  47. Targeted nanopore sequencing with Cas9-guided adapter ligation. Nat Biotechnol. 2020 04; 38(4):433-438.
    View in: PubMed
    Score: 0.026
  48. Atlas-CNV: a validated approach to call single-exon CNVs in the eMERGESeq gene panel. Genet Med. 2019 09; 21(9):2135-2144.
    View in: PubMed
    Score: 0.025
  49. A multi-task convolutional deep neural network for variant calling in single molecule sequencing. Nat Commun. 2019 03 01; 10(1):998.
    View in: PubMed
    Score: 0.024
  50. Megabase Length Hypermutation Accompanies Human Structural Variation at 17p11.2. Cell. 2019 03 07; 176(6):1310-1324.e10.
    View in: PubMed
    Score: 0.024
  51. Phased diploid genome assembly with single-molecule real-time sequencing. Nat Methods. 2016 Dec; 13(12):1050-1054.
    View in: PubMed
    Score: 0.021
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The connection strength for concepts is the sum of the scores for each matching publication.

Publication scores are based on many factors, including how long ago they were written and whether the person is a first or senior author.