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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

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

Deconvolution of bulk blood eQTL effects into immune cell subpopulations

Immunochip meta-analysis in European and Argentinian populations identifies two novel genetic loci associated with celiac disease

Lack of Association Between Genetic Variants at ACE2 and TMPRSS2 Genes Involved in SARS-CoV-2 Infection and Human Quantitative Phenotypes

RNA-Sequencing Highlights Inflammation and Impaired Integrity of the Vascular Wall in Brain Arteriovenous Malformations

Targeted RNA sequencing enables detection of relevant translocations, single nucleotide variants and automatic leukemia classification

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Press/media

Youtube channel of Patrick Deelen