Author: Juha Karjalainen

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Preprints

Transcript expression-aware annotation improves rare variant discovery and interpretation

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Genetic analyses identify widespread sex-differential participation bias

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Polygenic and clinical risk scores and their impact on age at onset of cardiometabolic diseases and common cancers

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A missense variant in Mitochondrial Amidoxime Reducing Component 1 gene and protection against liver disease

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Cell specific eQTL analysis without sorting cells

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A contribution of novel CNVs to schizophrenia from a genome-wide study of 41,321 subjects

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Genomic dissection of bipolar disorder and schizophrenia including 28 subphenotypes

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Genetics of human plasma lipidome: Understanding lipid metabolism and its link to diseases beyond traditional lipids

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Trans-biobank analysis with 676,000 individuals elucidates the association of polygenic risk scores of complex traits with human lifespan

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Genetic predisposition to myeloproliferative neoplasms implicates hematopoietic stem cell biology

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Rare protein-altering variants in ANGPTL7 lower intraocular pressure and protect against glaucoma

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A large cross-ancestry meta-analysis of genome-wide association studies identifies 69 novel risk loci for primary open-angle glaucoma and includes a genetic link with Alzheimer's disease

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CCR5-del32 is not deleterious in the homozygous state in humans

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Junction-skipping regulation in complex disease

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Genetic analysis of obstructive sleep apnoea discovers a strong association with cardiometabolic health

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