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Author: Jonathan Marchini

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  • All-time downloads: 61,692 (rank: 535 out of 364,450)
  • Categories:
    • bioinformatics: 2,844 (rank: 3,450 (tie) out of 31,505)
    • genetics: 41,890 (rank: 89 out of 34,141)
    • genomics: 15,729 (rank: 573 out of 39,303)
    • neuroscience: 1,229 (rank: 12,396 (tie) out of 61,201)

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Preprints

Genome-wide genetic data on ~500,000 UK Biobank participants

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Whole exome sequencing and characterization of coding variation in 49,960 individuals in the UK Biobank

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Genome-wide association analyses identify 44 risk variants and refine the genetic architecture of major depression

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Genome-wide association studies of brain structure and function in the UK Biobank

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A reference panel of 64,976 haplotypes for genotype imputation

genetics more details view paper
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Fine-mapping of an expanded set of type 2 diabetes loci to single-variant resolution using high-density imputation and islet-specific epigenome maps

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BGEN: a binary file format for imputed genotype and haplotype data

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Refining The Accuracy Of Validated Target Identification Through Coding Variant Fine-Mapping In Type 2 Diabetes

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Explaining Missing Heritability Using Gaussian Process Regression

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Unified single-cell analysis of testis gene regulation and pathology in 5 mouse strains

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Narrow-sense heritability estimation of complex traits using identity-by-descent information.

genetics more details view paper
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Genotype imputation using the Positional Burrows Wheeler Transform

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Gene-environment interactions using a Bayesian whole genome regression model

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Integrative haplotype estimation with sub-linear complexity

bioinformatics more details view paper
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The spatial correspondence and genetic influence of inter-hemispheric connectivity with white matter microstructure

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    • In neuroscience: 3,705 out of 15,080
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Common genetic variation indicates separate etiologies for periventricular and deep white matter hyperintensities

neuroscience more details view paper
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Universal continuous severity traits underlying hundreds of Parkinson’s disease clinical features

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Non-linear randomized Haseman-Elston regression for estimation of gene-environment heritability

genetics more details view paper
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