A5053585995- Genetic and Kidney Cyst Diseases
- Genetic Syndromes and Imprinting
- Genomics and Rare Diseases
- Genomics and Phylogenetic Studies
- Hedgehog Signaling Pathway Studies
- Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities
- RNA modifications and cancer
- Genetics and Neurodevelopmental Disorders
- Sperm and Testicular Function
- Renal and related cancers
- Genomic variations and chromosomal abnormalities
- DNA Repair Mechanisms
- dental development and anomalies
- RNA and protein synthesis mechanisms
- Bone and Dental Protein Studies
- Cellular transport and secretion
- Genetic Neurodegenerative Diseases
- Sexual Differentiation and Disorders
- Bioinformatics and Genomic Networks
- Reproductive Biology and Fertility
- RNA Research and Splicing
- Mitochondrial Function and Pathology
- RNA regulation and disease
- Connective tissue disorders research
- Mathematical and Theoretical Epidemiology and Ecology Models
Inserm
2015-2025
Hôpitaux Universitaires de Strasbourg
2016-2025
Université de Strasbourg
2016-2025
Laboratoire de Génétique Médicale
2015-2023
Génétique Médicale & Génomique Fonctionelle
2017-2023
Laboratoire des Sciences de l'Ingénieur, de l'Informatique et de l'Imagerie
2014-2023
Institut Charles Sadron
2022
Institut de génétique et de biologie moléculaire et cellulaire
2008-2021
Hôpital Civil, Strasbourg
2010-2021
Génétique Moléculaire Génomique Microbiologie
2019
An essential prerequisite for any systems-level understanding of cellular functions is to correctly uncover and annotate all functional interactions among proteins in the cell. Toward this goal, remarkable progress has been made recent years, both terms experimental measurements computational prediction techniques. However, public efforts collect present protein interaction information have struggled keep up with pace discovery, partly because protein–protein can be error-prone require...
Functional partnerships between proteins are at the core of complex cellular phenotypes, and networks formed by interacting provide researchers with crucial scaffolds for modeling, data reduction annotation. STRING is a database web resource dedicated to protein–protein interactions, including both physical functional interactions. It weights integrates information from numerous sources, experimental repositories, computational prediction methods public text collections, thus acting as...
We describe the draft genome of microcrustacean Daphnia pulex, which is only 200 megabases and contains at least 30,907 genes. The high gene count a consequence an elevated rate duplication resulting in tandem clusters. More than third Daphnia's genes have no detectable homologs any other available proteome, most amplified families are specific to lineage. coexpansion interacting within metabolic pathways suggests that maintenance duplicated not random, analysis expression under different...
Parasitoid Wasp Genomes wasps, which prey on and reproduce in host insect species, play important roles plant herbivore interactions, may provide valuable tools the biological control of pest species. The Nasonia Genome Working Group (p. 343 ; see news story by Pennisi ) presents genome three very closely related species: vitripennis, N. giraulti , longicornis . findings document rapid evolution between a endosymbiont that can cause nuclear-cytoplasmic incompatibilities affect speciation.
The identification of orthologous genes forms the basis for most comparative genomics studies. Existing approaches either lack functional annotation identified groups, hampering interpretation subsequent results, or are manually annotated and thus lag behind rapid sequencing new genomes. Here we present eggNOG database ('evolutionary genealogy genes: Non-supervised Orthologous Groups'), which contains groups constructed from Smith-Waterman alignments through reciprocal best matches...
Orthologous relationships form the basis of most comparative genomic and metagenomic studies are essential for proper phylogenetic functional analyses. The third version eggNOG database (http://eggnog.embl.de) contains non-supervised orthologous groups constructed from 1133 organisms, doubling number genes with orthology assignment compared to v2. new release is result a improvements expansions: (i) underlying homology searches now based on SIMAP database; (ii) have been extended 41 levels...
Abstract Summary Structural Variations (SV) are a major source of variability in the human genome that shaped its actual structure during evolution. Moreover, many diseases caused by SV, highlighting need to accurately detect those genomic events but also annotate them and assist their biological interpretation. Therefore, we developed AnnotSV compiles functionally, regulatory clinically relevant information aims at providing annotations useful (i) interpret SV potential pathogenicity (ii)...
<h3>Background</h3> Intellectual disability (ID) is characterised by an extreme genetic heterogeneity. Several hundred genes have been associated to monogenic forms of ID, considerably complicating molecular diagnostics. Trio-exome sequencing was recently proposed as a diagnostic approach, yet remains costly for general implementation. <h3>Methods</h3> We report the alternative strategy targeted high-throughput 217 in which mutations had reported patients with ID or autism major clinical...
The identification of orthologous relationships forms the basis for most comparative genomics studies. Here, we present second version eggNOG database, which contains groups (OGs) constructed through reciprocal best BLAST matches and triangular linkage clustering. We applied this procedure to 630 complete genomes (529 bacteria, 46 archaea 55 eukaryotes), is a 2-fold increase relative previous version. pipeline yielded 224 847 OGs, including 9724 extended versions original COG KOG. computed...
Abstract The increasing number of sequenced genomes has prompted the development several automated orthology prediction methods. Tests to evaluate accuracy predictions and explore biases caused by biological technical factors are therefore required. We used 70 manually curated families analyze performance five public methods in Metazoa. analyzed strengths weaknesses quantified impact challenges. From latter part analysis, genome annotation emerged as largest single influencer, affecting up...
Alström Syndrome (ALMS), a recessive, monogenic ciliopathy caused by mutations in ALMS1, is typically characterized multisystem involvement including early cone-rod retinal dystrophy and blindness, hearing loss, childhood obesity, type 2 diabetes mellitus, cardiomyopathy, fibrosis, multiple organ failure. The precise function of ALMS1 remains elusive, but roles endosomal ciliary transport cell cycle regulation have been shown. aim our study was to further define the spectrum patients with...
Bardet-Biedl syndrome (BBS) is a recessive and genetically heterogeneous ciliopathy characterised by retinitis pigmentosa, obesity, kidney dysfunction, postaxial polydactyly, behavioural dysfunction hypogonadism. 7 of the 17 BBS gene products identified to date assemble together with protein BBIP1/BBIP10 into BBSome, complex that ferries signalling receptors from cilia.Exome sequencing performed on sporadic case revealed for first time homozygous stop mutation (NM_001195306: c.173T>G,...
Infertility is a global healthcare problem, and despite long years of assisted reproductive activities, significant number cases remain idiopathic. Our currently restricted understanding basic mechanisms driving human gametogenesis severely limits the improvement clinical care for infertile patients. Using exome sequencing, we identified nonsense mutation leading to premature stop in TEX15 locus (c.2130T>G, p.Y710*) consanguineous Turkish family comprising eight siblings which three brothers...
<b>Change in the vessel-related structures, a computer-derived CT variable, is strong predictor of outcome idiopathic pulmonary fibrosis and can increase power future drug trials when used as co-endpoint alongside forced vital capacity change</b>http://bit.ly/2M7DfKS
Abstract With the dramatic increase of pangenomic analysis, Human geneticists have generated large amount genomic data including millions small variants (SNV/indel) but also thousands structural variations (SV) mainly from next-generation sequencing and array-based techniques. While identification complete SV repertoire a patient is getting possible, interpretation each remains challenging. To help identifying human pathogenic SV, we developed web server dedicated to their annotation ranking...
Actin-related proteins (ARPs) are key players in cytoskeleton activities and nuclear functions. Two complexes, ARP2/3 ARP1/11, also known as dynactin, implicated actin dynamics microtubule-based trafficking, respectively. ARP4 to ARP9 components of many chromatin-modulating complexes. Conventional actins ARPs codefine a large family homologous proteins, the superfamily, with tertiary structure fold. Because share high sequence conservation, clear definition requires distinct features easily...
To date, mutations in two genes, SPATA16 and DPY19L2, have been identified as responsible for a severe teratozoospermia, namely globozoospermia. The initial descriptions of the DPY19L2 deletion lead to very different rate occurrence this mutation among globospermic patients. In order better estimate contribution globozoospermia, we screened larger cohort including 64 globozoospermic Twenty new patients were homozygous deletion, 7 compound heterozygous both point mutation. We also four...
Inherited neuromuscular disorders (NMD) are chronic genetic diseases posing a significant burden on patients and the health care system. Despite tremendous research clinical efforts, molecular causes remain unknown for nearly half of patients, due to heterogeneity conventional diagnosis based gene-by-gene approach. We aimed test next generation sequencing (NGS) as an efficient cost-effective strategy accelerate patient diagnosis. designed capture library target coding splice site sequences...