Connection

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
  1. PRINCESS: comprehensive detection of haplotype resolved SNVs, SVs, and methylation. Genome Biol. 2021 09 14; 22(1):268.
    View in: PubMed
    Score: 0.497
  2. Towards population-scale long-read sequencing. Nat Rev Genet. 2021 09; 22(9):572-587.
    View in: PubMed
    Score: 0.486
  3. Accurate detection of complex structural variations using single-molecule sequencing. Nat Methods. 2018 06; 15(6):461-468.
    View in: PubMed
    Score: 0.393
  4. Updating benchtop sequencing performance comparison. Nat Biotechnol. 2013 Apr; 31(4):294-6.
    View in: PubMed
    Score: 0.276
  5. 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: 0.271
  6. Unveiling microbial diversity: harnessing long-read sequencing technology. Nat Methods. 2024 Jun; 21(6):954-966.
    View in: PubMed
    Score: 0.149
  7. Utility of long-read sequencing for All of Us. Nat Commun. 2024 Jan 29; 15(1):837.
    View in: PubMed
    Score: 0.146
  8. Detection of mosaic and population-level structural variants with Sniffles2. Nat Biotechnol. 2024 Oct; 42(10):1571-1580.
    View in: PubMed
    Score: 0.146
  9. The complete sequence of a human Y chromosome. Nature. 2023 Sep; 621(7978):344-354.
    View in: PubMed
    Score: 0.142
  10. FixItFelix: improving genomic analysis by fixing reference errors. Genome Biol. 2023 02 21; 24(1):31.
    View in: PubMed
    Score: 0.137
  11. A complete reference genome improves analysis of human genetic variation. Science. 2022 04; 376(6588):eabl3533.
    View in: PubMed
    Score: 0.129
  12. The complete sequence of a human genome. Science. 2022 04; 376(6588):44-53.
    View in: PubMed
    Score: 0.129
  13. Hidden biases in germline structural variant detection. Genome Biol. 2021 12 20; 22(1):347.
    View in: PubMed
    Score: 0.126
  14. 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: 0.124
  15. 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: 0.124
  16. Optimized sample selection for cost-efficient long-read population sequencing. Genome Res. 2021 05; 31(5):910-918.
    View in: PubMed
    Score: 0.120
  17. Complex mosaic structural variations in human fetal brains. Genome Res. 2020 12; 30(12):1695-1704.
    View in: PubMed
    Score: 0.117
  18. PhaseME: Automatic rapid assessment of phasing quality and phasing improvement. Gigascience. 2020 07 01; 9(7).
    View in: PubMed
    Score: 0.114
  19. 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: 0.113
  20. Approaches to Whole Mitochondrial Genome Sequencing on the Oxford Nanopore MinION. Curr Protoc Hum Genet. 2019 12; 104(1):e94.
    View in: PubMed
    Score: 0.110
  21. 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: 0.107
  22. 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: 0.103
  23. GenomeScope: fast reference-free genome profiling from short reads. Bioinformatics. 2017 Jul 15; 33(14):2202-2204.
    View in: PubMed
    Score: 0.093
  24. Advanced methylome analysis after bisulfite deep sequencing: an example in Arabidopsis. PLoS One. 2012; 7(7):e41528.
    View in: PubMed
    Score: 0.066
  25. 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: 0.039
  26. The GIAB genomic stratifications resource for human reference genomes. Nat Commun. 2024 Oct 19; 15(1):9029.
    View in: PubMed
    Score: 0.038
  27. 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: 0.038
  28. StratoMod: predicting sequencing and variant calling errors with interpretable machine learning. Commun Biol. 2024 Oct 13; 7(1):1316.
    View in: PubMed
    Score: 0.038
  29. Characterization and visualization of tandem repeats at genome scale. Nat Biotechnol. 2024 Oct; 42(10):1606-1614.
    View in: PubMed
    Score: 0.036
  30. Improved sequence mapping using a complete reference genome and lift-over. Nat Methods. 2024 Jan; 21(1):41-49.
    View in: PubMed
    Score: 0.036
  31. 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: 0.036
  32. 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: 0.035
  33. 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: 0.035
  34. Curated variation benchmarks for challenging medically relevant autosomal genes. Nat Biotechnol. 2022 05; 40(5):672-680.
    View in: PubMed
    Score: 0.032
  35. Ultrarapid Nanopore Genome Sequencing in a Critical Care Setting. N Engl J Med. 2022 02 17; 386(7):700-702.
    View in: PubMed
    Score: 0.032
  36. 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: 0.031
  37. Vulcan: Improved long-read mapping and structural variant calling via dual-mode alignment. Gigascience. 2021 09 24; 10(9).
    View in: PubMed
    Score: 0.031
  38. muCNV: Genotyping Structural Variants for Population-level Sequencing. Bioinformatics. 2021 08 04; 37(14):2055?2057.
    View in: PubMed
    Score: 0.030
  39. 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: 0.029
  40. Discovery and population genomics of structural variation in a songbird genus. Nat Commun. 2020 07 07; 11(1):3403.
    View in: PubMed
    Score: 0.029
  41. A robust benchmark for detection of germline large deletions and insertions. Nat Biotechnol. 2020 11; 38(11):1347-1355.
    View in: PubMed
    Score: 0.028
  42. Targeted nanopore sequencing with Cas9-guided adapter ligation. Nat Biotechnol. 2020 04; 38(4):433-438.
    View in: PubMed
    Score: 0.028
  43. 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: 0.026
  44. 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: 0.026
  45. Megabase Length Hypermutation Accompanies Human Structural Variation at 17p11.2. Cell. 2019 03 07; 176(6):1310-1324.e10.
    View in: PubMed
    Score: 0.026
  46. Phased diploid genome assembly with single-molecule real-time sequencing. Nat Methods. 2016 Dec; 13(12):1050-1054.
    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.