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Author: Jonathan K. Pritchard

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  • All-time downloads: 94,698 (rank: 1,093 out of 512,740)
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    • cancer biology: 381 (rank: 17,271 (tie) out of 31,551)
    • cell biology: 338 (rank: 21,210 (tie) out of 34,059)
    • evolutionary biology: 9,981 (rank: 154 out of 22,306)
    • genetics: 44,737 (rank: 91 out of 38,759)
    • genomics: 34,079 (rank: 237 out of 45,789)
    • molecular biology: 4,176 (rank: 576 (tie) out of 24,274)
    • scientific communication and education: 1,006 (rank: 776 (tie) out of 3,548)

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Preprints

Detection of human adaptation during the past 2,000 years

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LeafCutter: Annotation-free quantification of RNA splicing

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Variational Inference of Population Structure in Large SNP Datasets

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Genetics of 38 blood and urine biomarkers in the UK Biobank

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Reduced signal for polygenic adaptation of height in UK Biobank

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Variable prediction accuracy of polygenic scores within an ancestry group

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Trans effects on gene expression can drive omnigenic inheritance

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Evolutionary persistence of DNA methylation for millions of years after ancient loss of a de novo methyltransferase

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Landscape of stimulation-responsive chromatin across diverse human immune cells

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WASP: allele-specific software for robust discovery of molecular quantitative trait loci

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GWAS of three molecular traits highlights core genes and pathways alongside a highly polygenic background

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Coregulation of tandem duplicate genes slows evolution of subfunctionalization in mammals.

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Thousands of novel translated open reading frames in humans inferred by ribosome footprint profiling

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Batch effects and the effective design of single-cell gene expression studies

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Inferring Relevant Cell Types For Complex Traits Using Single-Cell Gene Expression

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High-resolution mapping of cancer cell networks using co-functional interactions

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Rapid evolution of the human mutation spectrum

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Impact of regulatory variation across human iPSCs and differentiated cells

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Effects of variable mutation rates and epistasis on the distribution of allele frequencies in humans

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Narcolepsy risk loci are enriched in immune cells and suggest autoimmune modulation of the T cell receptor repertoire

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Methylation QTLs are associated with coordinated changes in transcription factor binding, histone modifications, and gene expression levels.

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msCentipede: Modeling heterogeneity across genomic sites improves accuracy in the inference of transcription factor binding

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Determining the genetic basis of anthracycline-cardiotoxicity by molecular response QTL mapping in induced cardiomyocytes

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Genetic Variation, Not Cell Type of Origin, Underlies Regulatory Differences in iPSCs

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SciReader*: A Cloud-based Recommender System for Biomedical Literature

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Frequent Non-Allelic Gene Conversion On The Human Lineage And Its Effect On The Divergence Of Gene Duplicates

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Reprogramming LCLs to iPSCs Results in Recovery of Donor-Specific Gene Expression Signature

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Epigenetic Modifications are Associated with Inter-species Gene Expression Variation in Primates

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Measurement of selective constraint on human gene expression

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Shared heritability of face and brain shape distinct from cognitive traits

genetics more details view paper
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Whole genome sequencing identifies a novel factor required for secretory granule maturation in Tetrahymena thermophila

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Convergent mutations in tissue-specific regulatory regions reveal novel cancer drivers

cancer biology more details view paper
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An evolutionary switch in the specificity of an endosomal CORVET tether underlies formation of regulated secretory vesicles in the ciliate Tetrahymena thermophila

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