Author: Jean-François Deleuze

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Preprints

Insights into human genetic variation and population history from 929 diverse genomes

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  • Site-wide: 982
  • In genomics: 95
• Year to date:
  • Site-wide: 2,725
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  • Site-wide: 5,838

Comprehensive analysis of RNA-seq kits for standard, low and ultra-low quantity samples

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  • Site-wide: 14,307
  • In genomics: 1,548
• Year to date:
  • Site-wide: 37,607
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  • Site-wide: 37,658

Clonal assessment of functional mutations in cancer based on a genotype-aware method for clonal reconstruction

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  • Site-wide: 25,703
  • In cancer biology: 663
• Year to date:
  • Site-wide: 85,988
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  • Site-wide: 96,090

Both rare and common genetic variants contribute to autism in the Faroe Islands

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  • Site-wide: 29,171
  • In genetics: 1,469
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  • Site-wide: 114,973
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  • Site-wide: 64,713

First genome-wide association study of non-severe malaria in two birth cohorts in Benin

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  • Site-wide: 56,019
  • In genetics: 2,693
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  • Site-wide: 75,849
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  • Site-wide: 78,714

Genome wide association analysis in dilated cardiomyopathy reveals two new key players in systolic heart failure on chromosome 3p25.1 and 22q11.23

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  • Site-wide: 56,244
  • In genomics: 4,264
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  • Site-wide: 20,743
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  • Site-wide: 28,013

Region-specific expression of young small-scale duplications in the human central nervous system

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  • Site-wide: 67,184
  • In genomics: 4,756
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  • Site-wide: 21,487

Proteasome subunit PSMC3 variants cause neurosensory syndrome combining deafness and cataract due to proteotoxic stress

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  • Site-wide: 67,812
  • In genetics: 3,216
• Year to date:
  • Site-wide: 48,226
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  • Site-wide: 73,112

A novel nonsense variant in SUPT20H gene associated with Rheumatoid Arthritis identified by Whole Exome Sequencing of multiplex families

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  • Site-wide: 79,619
  • In genomics: 5,246
• Year to date:
  • Site-wide: 65,722
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  • Site-wide: 117,709

OPTIMIR, a novel algorithm for integrating available genome-wide genotype data into miRNA sequence alignment analysis.

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  • Site-wide: 80,640
  • In bioinformatics: 7,394
• Year to date:
  • Site-wide: 46,941
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Chr21 protein-protein interactions: enrichment in products involved in intellectual disabilities, autism and Late Onset Alzheimer Disease

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  • Site-wide: 90,403
  • In neuroscience: 14,296
• Year to date:
  • Site-wide: 17,550
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  • Site-wide: 70,089

Multi-hit autism genomic architecture evidenced from consanguineous families with involvement of FEZF2 and mutations in high-risk genes

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  • Site-wide: 90,795
  • In neuroscience: 14,375
• Year to date:
  • Site-wide: 41,991
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  • Site-wide: 91,892

MORFEE: a new tool for detecting and annotating single nucleotide variants creating premature ATG codons from VCF files

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  • Site-wide: 98,789
  • In bioinformatics: 8,511
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  • Site-wide: 73,248
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  • Site-wide: 60,505

A novel rare c. -39C>T mutation in the PROS1 5′UTR causing PS deficiency by creating a new upstream translation initiation codon and inhibiting the production of the natural protein.

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  • Site-wide: 111,352
  • In genetics: 4,931
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  • Site-wide: 98,758
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  • Site-wide: 72,241

An artificial neural network approach integrating plasma proteomics and genetic data identifies PLXNA4 as a new susceptibility locus for pulmonary embolism.

• Downloaded 116 times
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  • Site-wide: 113,464
  • In genetic and genomic medicine: 458
• Year to date:
  • Site-wide: 45,282
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Evaluation of saliva as a source of accurate whole-genome and microbiome sequencing data

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  • Site-wide: 117,649
  • In genetics: 5,116
• Year to date:
  • Site-wide: 40,203
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  • Site-wide: 41,836