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. Unveiling microbial diversity: harnessing long-read sequencing technology. Nat Methods. 2024 Jun; 21(6):954-966.
    View in: PubMed
    Score: 0.632
  2. Utility of long-read sequencing for All of Us. Nat Commun. 2024 Jan 29; 15(1):837.
    View in: PubMed
    Score: 0.621
  3. Hidden biases in germline structural variant detection. Genome Biol. 2021 12 20; 22(1):347.
    View in: PubMed
    Score: 0.537
  4. PRINCESS: comprehensive detection of haplotype resolved SNVs, SVs, and methylation. Genome Biol. 2021 09 14; 22(1):268.
    View in: PubMed
    Score: 0.527
  5. Towards population-scale long-read sequencing. Nat Rev Genet. 2021 09; 22(9):572-587.
    View in: PubMed
    Score: 0.516
  6. Piercing the dark matter: bioinformatics of long-range sequencing and mapping. Nat Rev Genet. 2018 06; 19(6):329-346.
    View in: PubMed
    Score: 0.420
  7. Accurate detection of complex structural variations using single-molecule sequencing. Nat Methods. 2018 06; 15(6):461-468.
    View in: PubMed
    Score: 0.417
  8. Teaser: Individualized benchmarking and optimization of read mapping results for NGS data. Genome Biol. 2015 Oct 22; 16:235.
    View in: PubMed
    Score: 0.350
  9. NextGenMap: fast and accurate read mapping in highly polymorphic genomes. Bioinformatics. 2013 Nov 01; 29(21):2790-1.
    View in: PubMed
    Score: 0.301
  10. 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: 0.287
  11. 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: 0.160
  12. Detection of mosaic and population-level structural variants with Sniffles2. Nat Biotechnol. 2024 Oct; 42(10):1571-1580.
    View in: PubMed
    Score: 0.155
  13. FixItFelix: improving genomic analysis by fixing reference errors. Genome Biol. 2023 02 21; 24(1):31.
    View in: PubMed
    Score: 0.146
  14. SVhound: detection of regions that harbor yet undetected structural variation. BMC Bioinformatics. 2023 Jan 20; 24(1):23.
    View in: PubMed
    Score: 0.145
  15. xAtlas: scalable small variant calling across heterogeneous next-generation sequencing experiments. Gigascience. 2022 12 28; 12.
    View in: PubMed
    Score: 0.144
  16. Truvari: refined structural variant comparison preserves allelic diversity. Genome Biol. 2022 12 27; 23(1):271.
    View in: PubMed
    Score: 0.144
  17. Vulcan: Improved long-read mapping and structural variant calling via dual-mode alignment. Gigascience. 2021 09 24; 10(9).
    View in: PubMed
    Score: 0.132
  18. 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: 0.132
  19. Parliament2: Accurate structural variant calling at scale. Gigascience. 2020 12 21; 9(12).
    View in: PubMed
    Score: 0.125
  20. 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: 0.120
  21. Approaches to Whole Mitochondrial Genome Sequencing on the Oxford Nanopore MinION. Curr Protoc Hum Genet. 2019 12; 104(1):e94.
    View in: PubMed
    Score: 0.116
  22. 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: 0.114
  23. Advanced methylome analysis after bisulfite deep sequencing: an example in Arabidopsis. PLoS One. 2012; 7(7):e41528.
    View in: PubMed
    Score: 0.070
  24. 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: 0.041
  25. The GIAB genomic stratifications resource for human reference genomes. Nat Commun. 2024 Oct 19; 15(1):9029.
    View in: PubMed
    Score: 0.041
  26. 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: 0.041
  27. StratoMod: predicting sequencing and variant calling errors with interpretable machine learning. Commun Biol. 2024 Oct 13; 7(1):1316.
    View in: PubMed
    Score: 0.041
  28. Improved sequence mapping using a complete reference genome and lift-over. Nat Methods. 2024 Jan; 21(1):41-49.
    View in: PubMed
    Score: 0.038
  29. Genomic variant benchmark: if you cannot measure it, you cannot improve it. Genome Biol. 2023 10 05; 24(1):221.
    View in: PubMed
    Score: 0.038
  30. 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: 0.038
  31. Variant calling and benchmarking in an era of complete human genome sequences. Nat Rev Genet. 2023 Jul; 24(7):464-483.
    View in: PubMed
    Score: 0.037
  32. 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: 0.035
  33. 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: 0.034
  34. Accelerated identification of disease-causing variants with ultra-rapid nanopore genome sequencing. Nat Biotechnol. 2022 07; 40(7):1035-1041.
    View in: PubMed
    Score: 0.034
  35. 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: 0.034
  36. Assessing reproducibility of inherited variants detected with short-read whole genome sequencing. Genome Biol. 2022 01 03; 23(1):2.
    View in: PubMed
    Score: 0.034
  37. 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: 0.033
  38. muCNV: Genotyping Structural Variants for Population-level Sequencing. Bioinformatics. 2021 08 04; 37(14):2055?2057.
    View in: PubMed
    Score: 0.032
  39. Targeted nanopore sequencing with Cas9-guided adapter ligation. Nat Biotechnol. 2020 04; 38(4):433-438.
    View in: PubMed
    Score: 0.029
  40. 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: 0.028
  41. 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: 0.026
  42. The pineapple genome and the evolution of CAM photosynthesis. Nat Genet. 2015 Dec; 47(12):1435-42.
    View in: PubMed
    Score: 0.022
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.