A5046889905- Genomics and Rare Diseases
- Cancer Genomics and Diagnostics
- Genomics and Phylogenetic Studies
- RNA and protein synthesis mechanisms
- Molecular Biology Techniques and Applications
- Genomic variations and chromosomal abnormalities
- Chromosomal and Genetic Variations
- RNA Research and Splicing
- RNA modifications and cancer
- Genetic Syndromes and Imprinting
- Acute Myeloid Leukemia Research
- Biomedical Text Mining and Ontologies
- Connective tissue disorders research
- Biochemical and Molecular Research
- MicroRNA in disease regulation
- Neurogenetic and Muscular Disorders Research
- Lysosomal Storage Disorders Research
- Gene expression and cancer classification
- Genomics and Chromatin Dynamics
- DNA Repair Mechanisms
- Healthcare Technology and Patient Monitoring
- Biological Research and Disease Studies
- Genetic Associations and Epidemiology
- Kruppel-like factors research
- Multiple Myeloma Research and Treatments
Charité - Universitätsmedizin Berlin
2013-2022
Berlin Institute of Health at Charité - Universitätsmedizin Berlin
2017-2022
Freie Universität Berlin
2022
Humboldt-Universität zu Berlin
2022
Berlin-Brandenburger Centrum für Regenerative Therapien
2011-2016
Wellcome Sanger Institute
2010
Justus-Liebig-Universität Gießen
2010
Pitié-Salpêtrière Hospital
1994
Sorbonne Université
1994
Château de Longchamp
1994
Patients with genetic disease of unknown causes can be rapidly diagnosed by bioinformatic analysis disease-associated DNA sequences and phenotype.
LINE-1 (L1) insertions comprise as much 17% of the human genome sequence, and similar proportions have been recorded for other mammalian species. Given established role L1 retrotransposons in shaping genomes, it becomes an important task to track annotate sources this activity: full length elements, able encode cis trans acting components retrotransposition machinery. The L1Base database (http://l1base.charite.de) contains annotated full-length sequences transposons including putatively...
Abstract The cell biology of circadian clocks is still in its infancy. Here, we describe an efficient strategy for generating knock-in reporter lines using CRISPR technology that particularly useful genes expressed transiently or at low levels, such as those coding clock proteins. We generated single and double cells with endogenously PER2 CRY1 fused to fluorescent proteins allowing us simultaneously monitor the dynamics live cells. Both are highly rhythmic nucleus human showing a much...
Elastin production is characteristically turned off during the maturation of elastin-rich organs such as aorta. MicroRNAs (miRNAs) are small regulatory RNAs that down-regulate target mRNAs by binding to miRNA elements (MREs) typically located in 3′ UTR. Here we show a striking up-regulation miR-29 and miR-15 family miRNAs murine aortic development with commensurate down-regulation targets including elastin other extracellular matrix (ECM) genes. There were total 14 MREs for coding sequences...
Abstract Motivation: Several recent studies have demonstrated the effectiveness of resequencing and single nucleotide variant (SNV) detection by deep short-read sequencing platforms. While several reliable algorithms are available for automated SNV detection, microindels in data presents a new bioinformatics challenge. Results: We systematically analyzed how mapping tools MAQ, Bowtie, Burrows-Wheeler alignment tool (BWA), Novoalign RazerS perform on simulated datasets that contain indels...
Glycosylphosphatidylinositol biosynthesis defects (GPIBDs) cause a group of phenotypically overlapping recessive syndromes with intellectual disability, for which pathogenic mutations have been described in 16 genes the corresponding molecular pathway. An elevated serum activity alkaline phosphatase (AP), GPI-linked enzyme, has used to assign GPIBDs phenotypic series hyperphosphatasia mental retardation syndrome (HPMRS) and distinguish them from another subset GPIBDs, termed multiple...
Transcript-based annotation and pedigree analysis are two basic steps in the computational of whole-exome sequencing experiments genetic diagnostics disease-gene discovery projects. Here, we present Jannovar, a stand-alone Java application as well library designed to be used larger software frameworks for exome genome analysis. Jannovar uses an interval tree identify all transcripts affected by given variant, provides Human Genome Variation Society-compliant annotations both variants...
Abstract Background The sheep is an important model organism for many types of medically relevant research, but molecular genetic experiments in the have been limited by lack knowledge about ovine gene sequences. Results Prior to our study, mRNA sequences only 1,556 partial or complete genes were publicly available. Therefore, we developed a composite de novo transcriptome assembly method next-generation sequence data combine known and EST sequences, from mouse cow, assembled short read...
MicroRNAs play important roles during cell reprogramming and differentiation. In this study, we identified the miR-497∼195 cluster, a member of miR-15 family, as strongly upregulated with age postnatal bone development in vivo late differentiation stages primary osteoblasts cultured vitro. Early expression miR-195-5p inhibits mineralization. Microarray analyses along quantitative PCR demonstrate that alters gene regulatory network osteoblast impairs induction morphogenetic protein (BMP)...
Copy Number Variants (CNVs) are deletions, duplications or insertions larger than 50 base pairs. They account for a large percentage of the normal genome variation and play major roles in human pathology. While array-based approaches have long been used to detect them clinical practice, whole-genome sequencing (WGS) bears promise allow concomitant exploration CNVs smaller variants. However, accurately calling from WGS remains difficult computational task, which consensus is still lacking. In...
Patients with paroxysmal nocturnal hemoglobinuria (PNH) have a clonal population of blood cells deficient in glycosylphosphatidylinositol-anchored (GPI-anchored) proteins, resulting from mutation the X-linked gene PIGA. Here we report on set patients whom PNH results instead biallelic PIGT chromosome 20. These PIGT-PNH clinically typical PNH, but they addition prominent autoinflammatory features, including recurrent attacks aseptic meningitis. In all these find germ-line point one allele,...
Gene regulation by transcription factors (TFs) determines developmental programs and cell identity. Consequently, mutations in TFs can lead to dramatic phenotypes humans disrupting gene regulation. To date, the molecular mechanisms that actually cause these have been difficult address experimentally. ChIP-seq, which couples chromatin immunoprecipitation with high-throughput sequencing, allows TF function be investigated on a genome-wide scale, enabling new approaches for investigation of...
Nonsyndromic retinitis pigmentosa (RP) is genetically highly heterogeneous, with >100 disease genes identified. However, mutations in these explain only 60% of all RP cases. Blood samples were collected from 12 members an autosomal recessive family. Whole genome homozygosity mapping and haplotype analysis placed the locus this family at chromosome 14q31.3. Whole-exome sequencing (WES) proband revealed a mutation TTC8, which was flagged as most likely candidate gene by bioinformatic analysis....
A genome-wide evaluation of the effects ionizing radiation on mutation induction in mouse germline has identified multisite de novo mutations (MSDNs) as marker for previous exposure. Here we present results a small pilot study whole genome sequencing offspring soldiers who served radar units weapon systems that were emitting high-frequency radiation. We found cases exceptionally high MSDN rates well an increased mean our cohort: While is detected average 1 out 5 unexposed controls, observed...
Abstract Marfan syndrome ( MFS ) is an autosomal dominant genetic disorder caused by mutations in the FBN 1 gene. Although many peripheral tissues are affected, aortic complications, such as dilation, dissection and rupture, leading causes of ‐related mortality. Aberrant TGF ‐beta signalling plays a major role pathophysiology . However, contributing mechanisms still poorly understood. Here, we aimed at identifying novel aorta‐specific pathways involved For this purpose, employed Fbn1...
The last two human genome assemblies have extended the previous linear golden-path paradigm of to a graph-like model better represent regions with high degree structural variability. new offers opportunities improve technical validity variant calling in whole-genome sequencing (WGS).We developed an algorithm that analyzes patterns calls 178 structurally variable GRCh38 assembly, and infers whether given sample is most likely contain sequences from primary alternate locus, or their...
ABSTRACT Background Glycosylphosphatidylinositol Biosynthesis Defects (GPIBDs) cause a group of phenotypically overlapping recessive syndromes with intellectual disability, for which pathogenic mutations have been described in 16 genes the corresponding molecular pathway. An elevated serum activity alkaline phosphatase (AP), GPI-linked enzyme, has used to assign GPIBDs phenotypic series Hyperphosphatasia Mental Retardation Syndrome (HPMRS) and distinguish them from another subset GPIBDs,...