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Author: Giuseppe Narzisi

Rankings

  • All-time downloads: 23,308 (rank: 8,221 )
  • Categories:
    • bioinformatics: 13,480 (rank: 528 )
    • cancer biology: 618 (rank: 15,647 (tie) )
    • genomics: 9,210 (rank: 2,238 )

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Preprints

Accurate detection of de novo and transmitted INDELs within exome-capture data using micro-assembly

bioinformatics more details view paper
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    • Site-wide: 4,600
    • In bioinformatics: 452
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    • Site-wide: 94,958
  • Since beginning of last month:
    • Site-wide: 141,033

Multi-Platform Assessment of DNA Sequencing Performance using Human and Bacterial Reference Genomes in the ABRF Next-Generation Sequencing Study

genomics more details view paper
  • Downloaded 2,720 times
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    • Site-wide: 5,434
    • In genomics: 572
  • Year to date:
    • Site-wide: 7,440
  • Since beginning of last month:
    • Site-wide: 7,061

Reducing INDEL calling errors in whole-genome and exome sequencing data

bioinformatics more details view paper
  • Downloaded 2,490 times
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    • Site-wide: 6,214
    • In bioinformatics: 668
  • Year to date:
    • Site-wide: 101,751
  • Since beginning of last month:
    • Site-wide: 110,935

Indel variant analysis of short-read sequencing data with Scalpel

bioinformatics more details view paper
  • Downloaded 2,336 times
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    • Site-wide: 6,823
    • In bioinformatics: 750
  • Year to date:
    • Site-wide: 41,716
  • Since beginning of last month:
    • Site-wide: 60,454

Detection of long repeat expansions from PCR-free whole-genome sequence data

bioinformatics more details view paper
  • Downloaded 2,315 times
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    • Site-wide: 6,904
    • In bioinformatics: 764
  • Year to date:
    • Site-wide: 65,658
  • Since beginning of last month:
    • Site-wide: 74,742

High coverage whole genome sequencing of the expanded 1000 Genomes Project cohort including 602 trios

genomics more details view paper
  • Downloaded 2,077 times
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    • Site-wide: 8,075
    • In genomics: 847
  • Year to date:
    • Site-wide: 1,047
  • Since beginning of last month:
    • Site-wide: 1,275

Benchmarking challenging small variants with linked and long reads

genomics more details view paper
  • Downloaded 2,040 times
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    • Site-wide: 8,268
    • In genomics: 864
  • Year to date:
    • Site-wide: 3,158
  • Since beginning of last month:
    • Site-wide: 3,146

Lancet: genome-wide somatic variant calling using localized colored DeBruijn graphs

bioinformatics more details view paper
  • Downloaded 1,292 times
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    • Site-wide: 16,388
    • In bioinformatics: 1,921
  • Year to date:
    • Site-wide: 112,829
  • Since beginning of last month:
    • Site-wide: 130,847

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: 22,939
    • In genomics: 2,186
  • Year to date:
    • Site-wide: 64,900
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    • Site-wide: 41,463

ExpansionHunter: A sequence-graph based tool to analyze variation in short tandem repeat regions

bioinformatics more details view paper
  • Downloaded 980 times
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    • Site-wide: 24,606
    • In bioinformatics: 2,820
  • Year to date:
    • Site-wide: 71,876
  • Since beginning of last month:
    • Site-wide: 56,369

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

genomics more details view paper
  • Downloaded 906 times
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    • Site-wide: 27,531
    • In genomics: 2,512
  • Year to date:
    • Site-wide: 3,234
  • Since beginning of last month:
    • Site-wide: 447

ExpansionHunter Denovo: A computational method for locating known and novel repeat expansions in short-read sequencing data

bioinformatics more details view paper
  • Downloaded 804 times
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    • Site-wide: 32,523
    • In bioinformatics: 3,608
  • Year to date:
    • Site-wide: 72,792
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    • Site-wide: 66,888

YES1 amplification: a mechanism of acquired resistance to EGFR inhibitors identified by transposon mutagenesis and clinical genomics

cancer biology more details view paper
  • Downloaded 618 times
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    • Site-wide: 46,270
    • In cancer biology: 1,282
  • Year to date:
    • Site-wide: 97,953
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    • Site-wide: 138,682

De Novo Mutation in an Enhancer of EBF3 in simplex autism

genomics more details view paper
  • Downloaded 438 times
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    • Site-wide: 68,774
    • In genomics: 4,799
  • Year to date:
    • Site-wide: 42,053
  • Since beginning of last month:
    • Site-wide: 30,641

Somatic variant analysis of linked-reads sequencing data with Lancet

bioinformatics more details view paper
  • Downloaded 204 times
  • Download rankings, all-time:
    • Site-wide: 118,545
    • In bioinformatics: 9,672
  • Year to date:
    • Site-wide: 85,757
  • Since beginning of last month:
    • Site-wide: 105,783

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