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Author: Justin M. Zook

Rankings

  • All-time downloads: 107,899 (rank: 1,053 )
  • Categories:
    • bioinformatics: 19,247 (rank: 319 )
    • genetic and genomic medicine: 676 (rank: 4,564 (tie) )
    • genetics: 5,596 (rank: 3,586 (tie) )
    • genomics: 82,380 (rank: 112 )

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Preprints

Complete genomic and epigenetic maps of human centromeres

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A complete reference genome improves analysis of human genetic variation

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The complete sequence of a human genome

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    • In genomics: 10
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    • Site-wide: 40
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Highly-accurate long-read sequencing improves variant detection and assembly of a human genome

genomics more details view paper
  • Downloaded 13,235 times
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    • Site-wide: 632
    • In genomics: 40
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Efficient de novo assembly of eleven human genomes using PromethION sequencing and a novel nanopore toolkit

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  • Downloaded 9,007 times
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    • In bioinformatics: 57
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Comparing Variant Call Files for Performance Benchmarking of Next-Generation Sequencing Variant Calling Pipelines

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  • Downloaded 7,974 times
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Best Practices for Benchmarking Germline Small Variant Calls in Human Genomes

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    • In genomics: 123
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Extensive sequencing of seven human genomes to characterize benchmark reference materials

genomics more details view paper
  • Downloaded 6,421 times
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    • Site-wide: 1,616
    • In genomics: 134
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A robust benchmark for germline structural variant detection

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  • Downloaded 6,094 times
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    • Site-wide: 1,755
    • In genomics: 151
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An interlaboratory study of complex variant detection

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  • Downloaded 4,244 times
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    • In genetics: 99
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Reproducible integration of multiple sequencing datasets to form high-confidence SNP, indel, and reference calls for five human genome reference materials

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  • Downloaded 3,898 times
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svclassify: a method to establish benchmark structural variant calls

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  • Downloaded 2,369 times
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    • Site-wide: 6,682
    • In genomics: 716
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precisionFDA Truth Challenge V2: Calling variants from short- and long-reads in difficult-to-map regions

bioinformatics more details view paper
  • Downloaded 2,266 times
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    • Site-wide: 7,124
    • In bioinformatics: 807
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Benchmarking challenging small variants with linked and long reads

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  • Downloaded 2,040 times
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    • Site-wide: 8,268
    • In genomics: 864
  • Year to date:
    • Site-wide: 3,161
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Genome-wide reconstruction of complex structural variants using read clouds

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  • Downloaded 1,882 times
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    • In genomics: 968
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genomeview - an extensible python-based genomics visualization engine

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  • Downloaded 1,540 times
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    • Site-wide: 12,535
    • In genomics: 1,304
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A Rigorous Interlaboratory Examination of the Need to Confirm NGS-Detected Variants by an Orthogonal Method in Clinical Genetic Testing

genetics more details view paper
  • Downloaded 1,352 times
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    • Site-wide: 15,297
    • In genetics: 712
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    • Site-wide: 76,037
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    • Site-wide: 79,530

SVCurator: A Crowdsourcing app to visualize evidence of structural variants for the human genome

genomics more details view paper
  • Downloaded 1,029 times
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    • Site-wide: 22,933
    • In genomics: 2,186
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    • Site-wide: 64,977
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    • Site-wide: 41,891

Towards a Comprehensive Variation Benchmark for Challenging Medically-Relevant Autosomal Genes

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  • Downloaded 906 times
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    • Site-wide: 27,504
    • In genomics: 2,512
  • Year to date:
    • Site-wide: 3,235
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    • Site-wide: 447

A Diploid Assembly-based Benchmark for Variants in the Major Histocompatibility Complex

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  • Downloaded 903 times
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    • Site-wide: 27,666
    • In genomics: 2,520
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    • Site-wide: 85,704
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svviz: a read viewer for validating structural variants

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  • Downloaded 806 times
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    • Site-wide: 32,457
    • In genomics: 2,831
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One in seven pathogenic variants can be challenging to detect by NGS: An analysis of 450,000 patients with implications for clinical sensitivity and genetic test implementation

genetic and genomic medicine more details view paper
  • Downloaded 676 times
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    • Site-wide: 41,268
    • In genetic and genomic medicine: 160
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Assembly and Annotation of an Ashkenazi Human Reference Genome

genomics more details view paper
  • Downloaded 589 times
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    • Site-wide: 49,117
    • In genomics: 3,805
  • Year to date:
    • Site-wide: 65,404
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    • Site-wide: 65,931

High-coverage, long-read sequencing of Han Chinese trio reference samples.

genomics more details view paper
  • Downloaded 435 times
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    • Site-wide: 69,406
    • In genomics: 4,824
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    • Site-wide: 136,855
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Chasing perfection: validation and polishing strategies for telomere-to-telomere genome assemblies

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  • Downloaded 409 times
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    • Site-wide: 73,671
    • In genomics: 5,009
  • Year to date:
    • Site-wide: 10,325
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    • Site-wide: 1,252

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