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Author: Zhiyu Peng

Rankings

  • All-time downloads: 9,091 (rank: 35,585 (tie) )
  • Categories:
    • bioinformatics: 487 (rank: 32,412 (tie) )
    • genetic and genomic medicine: 789 (rank: 6,471 (tie) )
    • genetics: 5,893 (rank: 3,818 )
    • genomics: 681 (rank: 35,686 (tie) )
    • molecular biology: 457 (rank: 19,582 (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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    • Site-wide: 17,157
    • In genetics: 753
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    • Site-wide: 28,946
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    • Site-wide: 18,685

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

genetics more details view paper
  • Downloaded 964 times
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    • Site-wide: 37,511
    • In genetics: 1,654
  • Year to date:
    • Site-wide: 33,810
  • Since beginning of last month:
    • Site-wide: 48,109

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

genetics more details view paper
  • Downloaded 655 times
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    • Site-wide: 65,839
    • In genetics: 2,438
  • Year to date:
    • Site-wide: 156,251
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    • Site-wide: 125,801

Diagnostic Whole Exome Sequencing in Patients with Short Stature

genetics more details view paper
  • Downloaded 625 times
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    • Site-wide: 70,116
    • In genetics: 2,617
  • Year to date:
    • Site-wide: 140,331
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    • Site-wide: 67,256

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

genetics more details view paper
  • Downloaded 611 times
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    • Site-wide: 72,233
    • In genetics: 2,712
  • Year to date:
    • Site-wide: 139,780
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    • Site-wide: 152,489

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

genomics more details view paper
  • Downloaded 506 times
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    • Site-wide: 90,852
    • In genomics: 5,515
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    • Site-wide: 85,868
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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 486 times
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    • Site-wide: 95,051
    • In molecular biology: 2,558
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    • Site-wide: 144,194
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Whole exome sequencing identifies genes associated with non-obstructive azoospermia

genetic and genomic medicine more details view paper
  • Downloaded 466 times
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    • Site-wide: 99,583
    • In genetic and genomic medicine: 518
  • Year to date:
    • Site-wide: 103,035
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VIP-HL: Semi-automated ACMG/AMP variant interpretation platform for genetic hearing loss

bioinformatics more details view paper
  • Downloaded 446 times
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    • Site-wide: 104,202
    • In bioinformatics: 8,515
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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 415 times
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    • Site-wide: 111,753
    • In genetics: 4,070
  • Year to date:
    • Site-wide: 164,129
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    • Site-wide: 105,028

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

genetic and genomic medicine more details view paper
  • Downloaded 398 times
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    • Site-wide: 116,110
    • In genetic and genomic medicine: 661
  • Year to date:
    • Site-wide: 106,532
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    • Site-wide: 128,673

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

genetics more details view paper
  • Downloaded 394 times
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    • Site-wide: 117,022
    • In genetics: 4,298
  • Year to date:
    • Site-wide: 129,875
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    • Site-wide: 154,518

Haplotype-Based Noninvasive Prenatal Diagnosis for Duchenne Muscular Dystrophy: A pilot study in South China

genetics more details view paper
  • Downloaded 388 times
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    • Site-wide: 118,694
    • In genetics: 4,374
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    • Site-wide: 132,214
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    • Site-wide: 103,447

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 349 times
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    • Site-wide: 129,480
    • In genetics: 4,751
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    • Site-wide: 156,800
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    • Site-wide: 159,300

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 263 times
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    • Site-wide: 154,539
    • In genomics: 7,626
  • Year to date:
    • Site-wide: 103,285
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    • Site-wide: 80,630

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

genetics more details view paper
  • Downloaded 221 times
  • Download rankings, all-time:
    • Site-wide: 166,080
    • In genetics: 5,795
  • Year to date:
    • Site-wide: 187,621
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    • Site-wide: 162,507

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 176 times
  • Download rankings, all-time:
    • Site-wide: 177,062
    • In genetics: 6,322
  • Year to date:
    • Site-wide: 69,450
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    • Site-wide: 73,885

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

bioinformatics more details view paper
  • Downloaded 128 times
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    • Site-wide: 186,145
    • In bioinformatics: 12,901
  • Year to date:
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