Beyond the exome

DFG funded Research Group (FOR 2841)

Scientific projects of Beyond the exome

P01: The role of dynamic gene expression in myogenic stem cells

Testbeschreibung The developing muscle forms and maintains a pool of myogenic stem cells. These resident stem cells are the source of myoblasts for muscle growth during development and generate satellite cells in the perinatal period.
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P02: DNA recognition-element binding by GRHL/CP2-family and NKX2-1 transcription factors

Testbeschreibung Transcriptional gene regulation depends on the transcription factors’ (TFs) ability to faithfully recognize DNA target sequences in promoters or enhancers. These molecular recognition processes usually tolerate small variations within the target sequence with only moderate loss in binding affinity.
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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: Determination of DNA sequence patterns crucial for transcription factor binding

Testbeschreibung Tight regulation of gene expression plays a major role in human development. Its dysregulation by mutations within the transcription factor binding sites (TFBS) of enhancers or promoters may lead to disease. As the current methods for predicting human TFBSs are notoriously inaccurate, we want to improve the predictability of disease-causing variants in the human genome.
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P10: Reaching out Beyond the Exome: Using graphic medicine to educate the public about the science behind and the impact of rare genetic diseases

Testbeschreibung Public outreach is critical for bringing the newest scientific findings into the public eye and for conveying the impact of medical research on the individual and society.
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