Matthias Geihs

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Normal thyroid function is essential for health, but its genetic architecture remains poorly understood. Here, for the heritable thyroid traits thyrotropin (TSH) and free thyroxine (FT4), we analyse whole-genome sequence data from the UK10K project (N=2,287). Using additional whole-genome sequence and deeply imputed data sets, we report meta-analysis(More)
The analysis of rich catalogues of genetic variation from population-based sequencing provides an opportunity to screen for functional effects. Here we report a rare variant in APOC3 (rs138326449-A, minor allele frequency ~0.25% (UK)) associated with plasma triglyceride (TG) levels (-1.43 s.d. (s.e.=0.27 per minor allele (P-value=8.0 × 10(-8))) discovered(More)
Imputing genotypes from reference panels created by whole-genome sequencing (WGS) provides a cost-effective strategy for augmenting the single-nucleotide polymorphism (SNP) content of genome-wide arrays. The UK10K Cohorts project has generated a data set of 3,781 whole genomes sequenced at low depth (average 7x), aiming to exhaustively characterize genetic(More)
UNLABELLED High-throughput sequencing technologies survey genetic variation at genome scale and are increasingly used to study the contribution of rare and low-frequency genetic variants to human traits. As part of the Cohorts arm of the UK10K project, genetic variants called from low-read depth (average 7×) whole genome sequencing of 3621 cohort(More)
With increasing digitization, the amount of archived data that requires long-term protection of confidentiality and integrity increases rapidly. Examples include electronic health records, genome data bases, and tax data. In this paper we present the first archiving solution that provides everlasting confidentiality and, at the same time, maintains a proof(More)
The amount of security critical data that is only available in digital form is increasing constantly. The Evidence Record Syntax Specification (ERS) achieves very efficiently important security goals: integrity, authenticity, datedness, and non-repudiation. This paper supports the trustworthiness of ERS by proving ERS secure. This is done in a model(More)
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