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Author: Zhiyu Peng

Rankings

  • All-time downloads: 7,798 (rank: 33,776 (tie) )
  • Categories:
    • bioinformatics: 372 (rank: 35,480 (tie) )
    • genetic and genomic medicine: 734 (rank: 5,986 )
    • genetics: 5,622 (rank: 3,732 (tie) )
    • genomics: 620 (rank: 35,887 (tie) )
    • molecular biology: 450 (rank: 18,331 (tie) )

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Preprints

AutoPVS1: An automatic classification tool for PVS1 interpretation of null variants

genetics more details view paper
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    • In genetics: 773
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    • Site-wide: 11,851

Performance characterization of PCR-free whole genome sequencing for clinical diagnosis

genetics more details view paper
  • Downloaded 770 times
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    • Site-wide: 41,762
    • In genetics: 1,803
  • Year to date:
    • Site-wide: 17,039
  • Since beginning of last month:
    • Site-wide: 32,179

Nationwide population genetic screening improves outcomes of newborn screening for hearing loss in China

genetics more details view paper
  • Downloaded 625 times
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    • Site-wide: 55,703
    • In genetics: 2,367
  • Year to date:
    • Site-wide: 129,870
  • Since beginning of last month:
    • Site-wide: 153,127

Diagnostic Whole Exome Sequencing in Patients with Short Stature

genetics more details view paper
  • Downloaded 588 times
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    • Site-wide: 60,145
    • In genetics: 2,559
  • Year to date:
    • Site-wide: 113,726
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    • Site-wide: 91,395

Pre-implantation genetic diagnosis for a family with Usher syndrome through targeted sequencing and haplotype analysis

genetics more details view paper
  • Downloaded 573 times
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    • Site-wide: 62,049
    • In genetics: 2,653
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    • Site-wide: 119,156
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    • Site-wide: 91,461

Noninvasive prenatal diagnosis for Haemophilia A by a haplotype-based approach using cell-free fetal DNA in maternal plasma

molecular biology more details view paper
  • Downloaded 450 times
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    • Site-wide: 81,970
    • In molecular biology: 2,399
  • Year to date:
    • Site-wide: 125,483
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    • Site-wide: 121,646

Characterizing sensitivity and coverage of clinical WGS as a diagnostic test for genetic disorders

genomics more details view paper
  • Downloaded 419 times
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    • Site-wide: 88,302
    • In genomics: 5,610
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    • Site-wide: 49,534
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Whole exome sequencing identifies genes associated with non-obstructive azoospermia

genetic and genomic medicine more details view paper
  • Downloaded 398 times
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    • Site-wide: 92,716
    • In genetic and genomic medicine: 484
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    • Site-wide: 65,211
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Noninvasive prenatal test of methylmalonic academia cblC type through targeted sequencing of cell-free DNA in maternal plasma

genetics more details view paper
  • Downloaded 386 times
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    • Site-wide: 95,345
    • In genetics: 3,955
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    • Site-wide: 125,387
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Haplotype-Based Noninvasive Prenatal Diagnosis for Duchenne Muscular Dystrophy: A pilot study in South China

genetics more details view paper
  • Downloaded 345 times
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    • Site-wide: 104,878
    • In genetics: 4,327
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    • Site-wide: 91,617
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    • Site-wide: 54,203

Noninvasive Prenatal Diagnosis for Duchenne Muscular Dystrophy Based on the Direct Haplotype Phasing

genetics more details view paper
  • Downloaded 344 times
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    • Site-wide: 105,163
    • In genetics: 4,341
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    • Site-wide: 95,552
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    • Site-wide: 135,842

VIP-HL: Semi-automated ACMG/AMP variant interpretation platform for genetic hearing loss

bioinformatics more details view paper
  • Downloaded 342 times
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    • Site-wide: 105,768
    • In bioinformatics: 8,919
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    • Site-wide: 50,311
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    • Site-wide: 48,428

Molecular diagnosis of non-syndromic hearing loss patients using a stepwise approach

genetic and genomic medicine more details view paper
  • Downloaded 336 times
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    • Site-wide: 107,281
    • In genetic and genomic medicine: 585
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    • Site-wide: 44,649
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    • Site-wide: 50,450

Identification of TTN as a novel candidate gene for atrioventricular block in a Chinese pedigree by whole-exome sequencing

genetics more details view paper
  • Downloaded 320 times
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    • Site-wide: 111,262
    • In genetics: 4,574
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    • Site-wide: 116,807
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    • Site-wide: 129,629

Impact of ultrasonography on identifying noninvasive prenatal screening false-negative aneuploidy

genetics more details view paper
  • Downloaded 204 times
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    • Site-wide: 141,117
    • In genetics: 5,578
  • Year to date:
    • Site-wide: 153,006
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    • Site-wide: 164,024

Comprehensive genome sequencing analysis as a promising option in the prenatal diagnosis of fetal structural anomalies: a prospective study.

genomics more details view paper
  • Downloaded 201 times
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    • Site-wide: 141,942
    • In genomics: 7,405
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    • Site-wide: 124,696
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    • Site-wide: 75,781

Comprehensive simulation and interpretation of single nucleotide substitutions in GJB2 reveals the genetic and phenotypic landscape of GJB2-related hearing loss

genetics more details view paper
  • Downloaded 81 times
  • Download rankings, all-time:
    • Site-wide: 161,922
    • In genetics: 6,150
  • Year to date:
    • Site-wide: 130,491
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    • Site-wide: 23,777

PSEA: A phenotypic similarity ensemble approach for prioritizes candidate genes to aid mendelian disease diagnosis

bioinformatics more details view paper
  • Downloaded 30 times
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    • Site-wide: 164,676
    • In bioinformatics: 12,250
  • Year to date:
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