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Author: Mark Daly

  • Most recently observed institution: Analytical Translational Genetics Unit, Massachusetts General Hospital, Harvard University

Rankings

  • All-time downloads: 25,134 (rank: 1,336 out of 337,542)
  • Categories:
    • genetics: 20,267 (rank: 345 out of 32,540)
    • genomics: 4,867 (rank: 3,132 out of 37,074)

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Preprints

Partitioning heritability by functional category using GWAS summary statistics

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Regulatory variants explain much more heritability than coding variants across 11 common diseases

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Haplotypes of common SNPs can explain missing heritability of complex diseases

genetics more details view paper
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A missense variant in Mitochondrial Amidoxime Reducing Component 1 gene and protection against liver disease

genomics more details view paper
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De novo Variants In Neurodevelopmental Disorders With Epilepsy

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Human loss-of-function variants suggest that partial LRRK2 inhibition is a safe therapeutic strategy for Parkinson’s disease

genomics more details view paper
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Quantifying the unobserved protein-coding variants in human populations provides a roadmap for large-scale sequencing projects

genetics more details view paper
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Genome-wide association study implicates CHRNA2 in cannabis use disorder

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Subtle stratification confounds estimates of heritability from rare variants

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Identification of pathogenic variant enriched regions across genes and gene families

genetics more details view paper
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Whole genome view of the consequences of a population bottleneck using 2926 genome sequences from Finland and United Kingdom

genetics more details view paper
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Cross-disorder GWAS meta-analysis for Attention Deficit/Hyperactivity Disorder, Autism Spectrum Disorder, Obsessive Compulsive Disorder, and Tourette Syndrome

genetics more details view paper
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Reassessment Of Lesion-Associated Gene And Variant Pathogenicity In Focal Human Epilepsies

genetics more details view paper
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  • Since beginning of last month:
    • Site-wide: 35,277 out of 77,888

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