Beyond the exome

DFG funded Research Group (FOR 2841)

P02: Clonal evolution of somatic mosaicism during acute-to-chronic kidney disease progression

Testbeschreibung Acute kidney injury (AKI) is commonly observed in critically ill individuals and results in a greatly increased risk of progressive chronic kidney disease or death. AKI is initiated by complex pathophysiological processes that include inflammation, ischemia, hypoxia, and/or toxin exposure.
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P03: Structural variant calling with linked read sequencing data

Testbeschreibung Genomic structural variants (SVs) can cause a multitude of human phenotypes, including genetic diseases. SVs are, however, notoriously difficult to call from short-read sequencing data due to their length and their frequent location within repetitive regions of the genome.
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P04: Mapping the cis-regulatory landscape of the NKX2-1 locus and functional analyses of regulatory elements in thyroid development, disease, and evolution

Testbeschreibung The molecular mechanisms causing congenital hypothyroidism due to thyroid dysgenesis (CHTD) remain largely unknown. Candidate gene approaches and whole exome analyses revealed disease-causing coding variants in less than 5% of all CHTD cases.
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P05: A comprehensive repository of regulatory elements and their variations in human disease.

Testbeschreibung A comprehensive and high-quality account of the current state of knowledge of human gene regulation is a prerequisite for the design of future experiments and fundamental for all subprojects in this research unit.
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P06: The effects of non-coding duplications on gene regulation and disease pathology

Testbeschreibung Structural variants are a frequent cause of human disease that are often ignored if they are located in non-coding regions of the genome and/or are considered not to be related to gene dosage.
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P07: Epigenomic mapping of myogenic regulation in human muscle development

Testbeschreibung Congenital myopathies are a group of genetic muscle disorders clinically characterized by muscle hypotonia and weakness and a static or slowly progressive clinical course.
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P08: High resolution mapping and network analysis of myogenic transcription factors for the detection of non-coding disease-causing variants in congenital myopathy.

Testbeschreibung Congenital myopathies (CMs) are a heterogeneous group of disorders often manifesting as fetal akinesia (lack of in utero movement). Most severe forms of the disease are associated with Arthrogryposis multiplex congenita (AMC), a syndrome characterized by multiple con-genital joint contractures..
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P09: Development of software for better assessment of non-coding variants on gene expression

Testbeschreibung While much progress has been achieved in predicting the deleteriousness of coding variants, the assessment of non-coding variants still leaves much to be desired. With only about a third of current Exome Sequencing projects yielding a causal variant, it has become clear that the non-coding space also plays a role in genetic disease.
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