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Practical matters 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

A first update on mapping the human genetic architecture of COVID-19

Author Correction: Common and rare variant association analyses in amyotrophic lateral sclerosis identify 15 risk loci with distinct genetic architectures and neuron-specific biology (vol 53, pg 1636, 2021)

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

Impact of the COVID-19 pandemic on adults with moderate-to-severe atopic dermatitis in the Dutch general population

Increased genetic contribution to wellbeing during the COVID-19 pandemic

TAB2 deletions and loss-of-function variants cause a Noonan-like syndrome with mitral valve disease, cardiomyopathy and hypermobility

Validation of a clinical and genetic model for predicting severe COVID-19

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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

Veni-beurzen voor veertien Groningse onderzoekers

UMCG’ers ontvangen NWO-Veni van €250.000,-

Youtube channel of Patrick Deelen

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