Rxivist combines preprints from bioRxiv with data from Twitter to help you find the papers being discussed in your field. Currently indexing 73,530 bioRxiv papers from 320,012 authors.

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Preprints

Diagnostic Whole Exome Sequencing in Patients with Short Stature

• Downloaded 378 times
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  • In genetics: 2,049 out of 4,034
• Year to date:
  • Site-wide: 41,618 out of 73,530
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AutoPVS1: An automatic classification tool for PVS1 interpretation of null variants

• Downloaded 345 times
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  • Site-wide: 36,253 out of 73,530
  • In genetics: 2,212 out of 4,034
• Year to date:
  • Site-wide: 11,081 out of 73,530
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  • Site-wide: 11,081 out of 73,530

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

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  • Site-wide: 38,096 out of 73,530
  • In genetics: 2,319 out of 4,034
• Year to date:
  • Site-wide: 43,095 out of 73,530
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  • Site-wide: 43,095 out of 73,530

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

• Downloaded 275 times
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  • Site-wide: 44,139 out of 73,530
  • In molecular biology: 1,353 out of 2,394
• Year to date:
  • Site-wide: 38,154 out of 73,530
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  • Site-wide: 38,154 out of 73,530

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

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  • In genetics: 2,843 out of 4,034
• Year to date:
  • Site-wide: 29,575 out of 73,530
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  • Site-wide: 29,575 out of 73,530

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

• Downloaded 219 times
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  • In genetics: 3,061 out of 4,034
• Year to date:
  • Site-wide: 53,272 out of 73,530
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  • Site-wide: 53,272 out of 73,530

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

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  • In genetics: 3,560 out of 4,034
• Year to date:
  • Site-wide: 55,255 out of 73,530
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  • Site-wide: 55,255 out of 73,530

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

• Downloaded 148 times
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  • In genetics: 3,567 out of 4,034
• Year to date:
  • Site-wide: 40,852 out of 73,530
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  • Site-wide: 40,852 out of 73,530

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

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  • Site-wide: 63,528 out of 73,530
  • In genetics: 3,598 out of 4,034
• Year to date:
  • Site-wide: 57,289 out of 73,530
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  • Site-wide: 57,289 out of 73,530

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

• Downloaded 89 times
• Download rankings, all-time:
  • Site-wide: 70,157 out of 73,530
  • In genetics: 3,894 out of 4,034
• Year to date:
  • Site-wide: 62,421 out of 73,530
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  • Site-wide: 62,421 out of 73,530