Author: Holger Prokisch

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Preprints

Clinical implementation of RNA sequencing for Mendelian disease diagnostics

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Unraveling the polygenic architecture of complex traits using blood eQTL meta-analysis

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Genetic diagnosis of Mendelian disorders via RNA sequencing

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Cell specific eQTL analysis without sorting cells

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OUTRIDER: A statistical method for detecting aberrantly expressed genes in RNA sequencing data

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Detection of aberrant splicing events in RNA-seq data with FRASER

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OCR-Stats: Robust estimation and statistical testing of mitochondrial respiration activities using Seahorse XF Analyzer

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Quantification and discovery of sequence determinants of protein per mRNA amount in 29 human tissues

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Network reconstruction for trans acting genetic loci using multi-omics data and prior information

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Genetic architecture of early childhood growth phenotypes gives insights into their link with later obesity

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Mutations in ELAC2 associated with hypertrophic cardiomyopathy impair mitochondrial tRNA 3'-end processing

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Adaptive mitochondrial regulation of the proteasome

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Integration of proteomics with genomics and transcriptomics increases the diagnostic rate of Mendelian disorders

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