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How to find us P. (Patrick) Deelen

Research interests

I am primarily interested in improving the diagnostic yield of genome sequencing of patients who have a rare disease. I do this by integrating population genetics and transcriptomics.

Publications

Improving the diagnostic yield of exome-sequencing by predicting gene-phenotype associations using large-scale gene expression analysis

Identification of context-dependent expression quantitative trait loci in whole blood

Calling genotypes from public RNA-sequencing data enables identification of genetic variants that affect gene-expression levels

Idéfix: identifying accidental sample mix-ups in biobanks using polygenic scores

Large-scale cis- and trans-eQTL analyses identify thousands of genetic loci and polygenic scores that regulate blood gene expression

Lifelines COVID-19 cohort: investigating COVID-19 infection and its health and societal impacts in a Dutch population-based cohort

TAB2 deletions and variants cause a highly recognisable syndrome with mitral valve disease, cardiomyopathy, short stature and hypermobility

Using symptom-based case predictions to identify host genetic factors that contribute to COVID-19 susceptibility

A characterization of cis- and trans-heritability of RNA-Seq-based gene expression

CAPICE: a computational method for Consequence-Agnostic Pathogenicity Interpretation of Clinical Exome variations

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Press/media

Genetic regulation of blood cells: Proximity of a gene to a genetic change plays an important role

Coronacrisis vergroot de invloed DNA op gedrag en welbevinden

Invloed DNA op gedrag en welbevinden tijdens coronacrisis steeds groter

Opmerkelijk: DNA blijkt van invloed op gedrag en welbevinden tijdens coronacrisis, meldt UMCG

Jonge RUG-onderzoekers slepen tien VENI’s in de wacht

Youtube channel of Patrick Deelen

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