Author: Zhiyu Peng

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Preprints

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

• Downloaded 1,600 times
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  • Site-wide: 17,157
  • In genetics: 753
• Year to date:
  • Site-wide: 28,946
• Since beginning of last month:
  • Site-wide: 18,685

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

• 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

• Downloaded 655 times
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  • Site-wide: 65,839
  • In genetics: 2,438
• Year to date:
  • Site-wide: 156,251
• Since beginning of last month:
  • Site-wide: 125,801

Diagnostic Whole Exome Sequencing in Patients with Short Stature

• Downloaded 625 times
• Download rankings, all-time:
  • Site-wide: 70,116
  • In genetics: 2,617
• Year to date:
  • Site-wide: 140,331
• Since beginning of last month:
  • Site-wide: 67,256

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

• Downloaded 611 times
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  • Site-wide: 72,233
  • In genetics: 2,712
• Year to date:
  • Site-wide: 139,780
• Since beginning of last month:
  • Site-wide: 152,489

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

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  • Site-wide: 90,852
  • In genomics: 5,515
• Year to date:
  • Site-wide: 85,868
• Since beginning of last month:
  • Site-wide: 131,103

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

• Downloaded 486 times
• Download rankings, all-time:
  • Site-wide: 95,051
  • In molecular biology: 2,558
• Year to date:
  • Site-wide: 144,194
• Since beginning of last month:
  • Site-wide: 151,071

Whole exome sequencing identifies genes associated with non-obstructive azoospermia

• 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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  • Site-wide: 92,142

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

• Downloaded 446 times
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  • Site-wide: 104,202
  • In bioinformatics: 8,515
• Year to date:
  • Site-wide: 83,212
• Since beginning of last month:
  • Site-wide: 80,531

Noninvasive prenatal test of methylmalonic academia cblC type through targeted sequencing of cell-free DNA in maternal plasma

• Downloaded 415 times
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  • Site-wide: 111,753
  • In genetics: 4,070
• Year to date:
  • Site-wide: 164,129
• Since beginning of last month:
  • Site-wide: 105,028

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

• Downloaded 398 times
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  • Site-wide: 116,110
  • In genetic and genomic medicine: 661
• Year to date:
  • Site-wide: 106,532
• Since beginning of last month:
  • Site-wide: 128,673

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

• Downloaded 394 times
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  • Site-wide: 117,022
  • In genetics: 4,298
• Year to date:
  • Site-wide: 129,875
• Since beginning of last month:
  • Site-wide: 154,518

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

• Downloaded 388 times
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  • Site-wide: 118,694
  • In genetics: 4,374
• Year to date:
  • Site-wide: 132,214
• Since beginning of last month:
  • Site-wide: 103,447

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

• Downloaded 349 times
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  • Site-wide: 129,480
  • In genetics: 4,751
• Year to date:
  • 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.

• Downloaded 263 times
• Download rankings, all-time:
  • Site-wide: 154,539
  • In genomics: 7,626
• Year to date:
  • Site-wide: 103,285
• Since beginning of last month:
  • Site-wide: 80,630

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

• Downloaded 221 times
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  • 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

• Downloaded 176 times
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  • 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

• Downloaded 128 times
• Download rankings, all-time:
  • Site-wide: 186,145
  • In bioinformatics: 12,901
• Year to date:
  • Site-wide: 102,543
• Since beginning of last month:
  • Site-wide: 73,629