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FRITZ SEDLAZECK to Polymorphism, Single Nucleotide

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This is a "connection" page, showing publications FRITZ SEDLAZECK has written about Polymorphism, Single Nucleotide.
FRITZ SEDLAZECK
Connection Strength
1.861
Polymorphism, Single Nucleotide
  1. MethPhaser: methylation-based long-read haplotype phasing of human genomes. Nat Commun. 2024 Jun 22; 15(1):5327.
    View in: PubMed
    Score: 0.496
  2. Optimized sample selection for cost-efficient long-read population sequencing. Genome Res. 2021 05; 31(5):910-918.
    View in: PubMed
    Score: 0.397
  3. 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: 0.223
  4. Identification of allele-specific KIV-2 repeats and impact on Lp(a) measurements for cardiovascular disease risk. BMC Med Genomics. 2024 10 24; 17(1):255.
    View in: PubMed
    Score: 0.127
  5. xAtlas: scalable small variant calling across heterogeneous next-generation sequencing experiments. Gigascience. 2022 12 28; 12.
    View in: PubMed
    Score: 0.112
  6. Assessing reproducibility of inherited variants detected with short-read whole genome sequencing. Genome Biol. 2022 01 03; 23(1):2.
    View in: PubMed
    Score: 0.105
  7. PhaseME: Automatic rapid assessment of phasing quality and phasing improvement. Gigascience. 2020 07 01; 9(7).
    View in: PubMed
    Score: 0.094
  8. Phased diploid genome assembly with single-molecule real-time sequencing. Nat Methods. 2016 Dec; 13(12):1050-1054.
    View in: PubMed
    Score: 0.073
  9. 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: 0.032
  10. 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: 0.031
  11. The EN-TEx resource of multi-tissue personal epigenomes?& variant-impact models. Cell. 2023 03 30; 186(7):1493-1511.e40.
    View in: PubMed
    Score: 0.028
  12. TOP-LD: A tool to explore linkage disequilibrium with TOPMed whole-genome sequence data. Am J Hum Genet. 2022 06 02; 109(6):1175-1181.
    View in: PubMed
    Score: 0.027
  13. SARS-CoV-2 genomic diversity and the implications for qRT-PCR diagnostics and transmission. Genome Res. 2021 04; 31(4):635-644.
    View in: PubMed
    Score: 0.025
  14. Chromosome-scale, haplotype-resolved assembly of human genomes. Nat Biotechnol. 2021 03; 39(3):309-312.
    View in: PubMed
    Score: 0.024
  15. Discovery and population genomics of structural variation in a songbird genus. Nat Commun. 2020 07 07; 11(1):3403.
    View in: PubMed
    Score: 0.024
  16. 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: 0.021
  17. Megabase Length Hypermutation Accompanies Human Structural Variation at 17p11.2. Cell. 2019 03 07; 176(6):1310-1324.e10.
    View in: PubMed
    Score: 0.021
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