Connection

FRITZ SEDLAZECK to High-Throughput Nucleotide Sequencing

This is a "connection" page, showing publications FRITZ SEDLAZECK has written about High-Throughput Nucleotide Sequencing.
  1. A Hitchhiker's Guide to long-read genomic analysis. Genome Res. 2025 04 14; 35(4):545-558.
    View in: PubMed
    Score: 0.614
  2. Unveiling microbial diversity: harnessing long-read sequencing technology. Nat Methods. 2024 Jun; 21(6):954-966.
    View in: PubMed
    Score: 0.575
  3. Utility of long-read sequencing for All of Us. Nat Commun. 2024 01 29; 15(1):837.
    View in: PubMed
    Score: 0.565
  4. Hidden biases in germline structural variant detection. Genome Biol. 2021 12 20; 22(1):347.
    View in: PubMed
    Score: 0.488
  5. PRINCESS: comprehensive detection of haplotype resolved SNVs, SVs, and methylation. Genome Biol. 2021 09 14; 22(1):268.
    View in: PubMed
    Score: 0.479
  6. Towards population-scale long-read sequencing. Nat Rev Genet. 2021 09; 22(9):572-587.
    View in: PubMed
    Score: 0.470
  7. Piercing the dark matter: bioinformatics of long-range sequencing and mapping. Nat Rev Genet. 2018 06; 19(6):329-346.
    View in: PubMed
    Score: 0.382
  8. Accurate detection of complex structural variations using single-molecule sequencing. Nat Methods. 2018 06; 15(6):461-468.
    View in: PubMed
    Score: 0.379
  9. Teaser: Individualized benchmarking and optimization of read mapping results for NGS data. Genome Biol. 2015 Oct 22; 16:235.
    View in: PubMed
    Score: 0.319
  10. NextGenMap: fast and accurate read mapping in highly polymorphic genomes. Bioinformatics. 2013 Nov 01; 29(21):2790-1.
    View in: PubMed
    Score: 0.274
  11. 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: 0.261
  12. Assessing the readiness of Oxford Nanopore sequencing for clinical genomics applications. Genome Res. 2026 03 02; 36(3):460-471.
    View in: PubMed
    Score: 0.163
  13. Closing the gaps, and improving somatic structural variant analysis and benchmarking using CHM13-T2T. Genome Res. 2025 04 14; 35(4):621-631.
    View in: PubMed
    Score: 0.154
  14. Unraveling the hidden complexity of cancer through long-read sequencing. Genome Res. 2025 04 14; 35(4):599-620.
    View in: PubMed
    Score: 0.154
  15. K-mer analysis of long-read alignment pileups for structural variant genotyping. Nat Commun. 2025 Apr 04; 16(1):3218.
    View in: PubMed
    Score: 0.153
  16. Computational analysis of DNA methylation from long-read sequencing. Nat Rev Genet. 2025 Sep; 26(9):620-634.
    View in: PubMed
    Score: 0.153
  17. 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.
    View in: PubMed
    Score: 0.146
  18. Detection of mosaic and population-level structural variants with Sniffles2. Nat Biotechnol. 2024 Oct; 42(10):1571-1580.
    View in: PubMed
    Score: 0.141
  19. FixItFelix: improving genomic analysis by fixing reference errors. Genome Biol. 2023 02 21; 24(1):31.
    View in: PubMed
    Score: 0.132
  20. SVhound: detection of regions that harbor yet undetected structural variation. BMC Bioinformatics. 2023 Jan 20; 24(1):23.
    View in: PubMed
    Score: 0.132
  21. xAtlas: scalable small variant calling across heterogeneous next-generation sequencing experiments. Gigascience. 2022 12 28; 12.
    View in: PubMed
    Score: 0.131
  22. Truvari: refined structural variant comparison preserves allelic diversity. Genome Biol. 2022 12 27; 23(1):271.
    View in: PubMed
    Score: 0.131
  23. Vulcan: Improved long-read mapping and structural variant calling via dual-mode alignment. Gigascience. 2021 09 24; 10(9).
    View in: PubMed
    Score: 0.120
  24. 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: 0.120
  25. Parliament2: Accurate structural variant calling at scale. Gigascience. 2020 12 21; 9(12).
    View in: PubMed
    Score: 0.114
  26. 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: 0.109
  27. Approaches to Whole Mitochondrial Genome Sequencing on the Oxford Nanopore MinION. Curr Protoc Hum Genet. 2019 12; 104(1):e94.
    View in: PubMed
    Score: 0.106
  28. 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: 0.104
  29. Advanced methylome analysis after bisulfite deep sequencing: an example in Arabidopsis. PLoS One. 2012; 7(7):e41528.
    View in: PubMed
    Score: 0.064
  30. STRspy2.0: Unlocking the Potential of Long Reads for Forensic DNA Profiling. Int J Mol Sci. 2026 Feb 16; 27(4).
    View in: PubMed
    Score: 0.041
  31. Clair3-RNA: a deep learning-based small variant caller for long-read RNA sequencing data. Nat Commun. 2025 Dec 22; 16(1):11553.
    View in: PubMed
    Score: 0.040
  32. 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.
    View in: PubMed
    Score: 0.037
  33. The GIAB genomic stratifications resource for human reference genomes. Nat Commun. 2024 10 19; 15(1):9029.
    View in: PubMed
    Score: 0.037
  34. 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: 0.037
  35. StratoMod: predicting sequencing and variant calling errors with interpretable machine learning. Commun Biol. 2024 10 13; 7(1):1316.
    View in: PubMed
    Score: 0.037
  36. Improved sequence mapping using a complete reference genome and lift-over. Nat Methods. 2024 Jan; 21(1):41-49.
    View in: PubMed
    Score: 0.035
  37. Genomic variant benchmark: if you cannot measure it, you cannot improve it. Genome Biol. 2023 10 05; 24(1):221.
    View in: PubMed
    Score: 0.035
  38. 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: 0.034
  39. 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: 0.033
  40. Construction of a new chromosome-scale, long-read reference genome assembly for the Syrian hamster, Mesocricetus auratus. Gigascience. 2022 05 28; 11.
    View in: PubMed
    Score: 0.031
  41. Searching thousands of genomes to classify somatic and novel structural variants using STIX. Nat Methods. 2022 04; 19(4):445-448.
    View in: PubMed
    Score: 0.031
  42. Accelerated identification of disease-causing variants with ultra-rapid nanopore genome sequencing. Nat Biotechnol. 2022 07; 40(7):1035-1041.
    View in: PubMed
    Score: 0.031
  43. Rescuing low frequency variants within intra-host viral populations directly from Oxford Nanopore sequencing data. Nat Commun. 2022 03 14; 13(1):1321.
    View in: PubMed
    Score: 0.031
  44. Assessing reproducibility of inherited variants detected with short-read whole genome sequencing. Genome Biol. 2022 01 03; 23(1):2.
    View in: PubMed
    Score: 0.031
  45. 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: 0.030
  46. muCNV: Genotyping Structural Variants for Population-level Sequencing. Bioinformatics. 2021 08 04; 37(14):2055?2057.
    View in: PubMed
    Score: 0.029
  47. Targeted nanopore sequencing with Cas9-guided adapter ligation. Nat Biotechnol. 2020 04; 38(4):433-438.
    View in: PubMed
    Score: 0.027
  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. 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.
    View in: PubMed
    Score: 0.024
  50. The pineapple genome and the evolution of CAM photosynthesis. Nat Genet. 2015 Dec; 47(12):1435-42.
    View in: PubMed
    Score: 0.020
Connection Strength

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.