A5064472736- Genomic variations and chromosomal abnormalities
- Genomics and Rare Diseases
- Biomedical Text Mining and Ontologies
- Bioinformatics and Genomic Networks
- Gene expression and cancer classification
- Chromosomal and Genetic Variations
- Prenatal Screening and Diagnostics
- Cancer Genomics and Diagnostics
- Genomics and Phylogenetic Studies
- Legal Language and Interpretation
- Comparative and International Law Studies
- Judicial and Constitutional Studies
- DNA Repair Mechanisms
- RNA and protein synthesis mechanisms
- Bayesian Modeling and Causal Inference
- Machine Learning in Bioinformatics
- Genomics and Chromatin Dynamics
- Molecular Biology Techniques and Applications
- Infectious Diseases and Mycology
- Congenital heart defects research
- Metabolism and Genetic Disorders
- DNA and Biological Computing
- SARS-CoV-2 detection and testing
- Semantic Web and Ontologies
- CCD and CMOS Imaging Sensors
Agilent Technologies (United States)
2017
Charité - Universitätsmedizin Berlin
2013
Addenbrooke's Hospital
2013
Wellcome Sanger Institute
2013
Max Planck Institute for Molecular Genetics
2013
John Radcliffe Hospital
2013
KU Leuven
2003-2010
The Human Phenotype Ontology (HPO) project, available at http://www.human-phenotype-ontology.org, provides a structured, comprehensive and well-defined set of 10,088 classes (terms) describing human phenotypic abnormalities 13,326 subclass relations between the HPO classes. In addition we have developed logical definitions for 46% all using terms from ontologies anatomy, cell types, function, embryology, pathology other domains. This allows interoperability with several resources, especially...
E ndeavour ( http://www.esat.kuleuven.be/endeavourweb ; this web site is free and open to all users there no login requirement) a resource for the prioritization of candidate genes. Using training set genes known be involved in biological process interest, our approach consists (i) inferring several models (based on various genomic data sources), (ii) applying each model rank those candidates against profile (iii) merging rankings into global ranking In present article, we describe latest...
Array CGH (comparative genomic hybridization) enables the identification of chromosomal copy number changes. The availability clone sets covering human genome opens possibility for widespread use array both research and diagnostic purposes. In this manuscript we report on parameters that were critical successful implementation technology, assess quality criteria, discuss potential benefits pitfalls technology improved pre- postnatal constitutional genetic diagnosis. We propose to name...
The range of commercially available array platforms and analysis software packages is expanding their utility improving, making reliable detection copy-number variants (CNVs) relatively straightforward. Reliable interpretation CNV data, however, often difficult requires expertise. With our knowledge the human genome growing rapidly, applications for testing continuously broadening, resolution increasing, this leads to great complexity in interpreting what can be daunting data. Correct...
The availability of the human genome sequence as well large number physically accessible oligonucleotides, cDNA, and BAC clones across entire has triggered accelerated use several platforms for analysis DNA copy changes, amongst others microarray comparative genomic hybridization (arrayCGH). One challenges inherent to this new technology is management numbers data points generated in each individual experiment.
Whole-genome analysis, now including whole-genome sequencing, is moving rapidly into the clinical setting, leading to detection of human variation on a broader scale than ever before. Interpreting this information will depend availability thorough and accurate phenotype information, ability curate, store, access data genotype-phenotype relationships. This idea has already been demonstrated within context chromosomal microarray (CMA) testing. The International Standards for Cytogenomic Arrays...
Computational gene prioritization methods are useful to help identify susceptibility genes potentially being involved in genetic disease. Recently, text mining techniques have been applied extract prior knowledge from text-based genomic information sources and this can be used improve the process. However, effect of various vocabularies, representations ranking algorithms on for is still an issue that requires systematic comparative studies. Therefore, a benchmark study about by discussed...
Decoding transcriptional regulatory networks and the genomic cis-regulatory logic implemented in their control nodes is a fundamental challenge genome biology. High-throughput computational experimental analyses of sequences rely heavily on positive data from prior small-scale experiments, but vast majority previously discovered remains locked biomedical literature. We develop text-mining strategies to identify relevant publications extract sequence information assist annotation process....
How to efficiently integrate the daily practice of molecular biologists, geneticists, and clinicians with emerging computational strategies from systems biology is still much an open question.We built on recent advances in Wiki-based technologies develop a collaborative knowledge base gene prioritization portal aimed at mapping genes genomic regions, untangling their relations corresponding human phenotypes, congenital heart defects (CHDs). This not only evolving community repository current...
Biomedical literature provides a rich but unstructured source of associations between chromosomal regions and biomedical concepts. By mining MEDLINE abstracts, we annotate the human genome at level cytogenetic bands. Our method creates set aberration maps that associate bands to concepts from variety controlled vocabularies, including disease, dysmorphology, anatomy, development Gene Ontology branches. The association band (e.g. 4p16.3) concept microcephaly) is assessed by statistical...
Elucidating regulatory networks is an intensively studied topic in bioinformatics. Integration of different sources information could facilitate this task. We propose to incorporate these the structure prior a Bayesian network. are currently investigating two complementary information: PubMed abstracts combined with publicly available taxonomies or ontologies, and known protein-DNA interactions. These priors, either separately combined, have potential reducing complexity reverse-engineering...
The value of human papillomavirus (HPV) testing for cervical cancer screening is well established; however, its use as a primary option or reflex test after atypical cytology results now gaining wider acceptance. importance full genotyping and viral load determination has been demonstrated to enhance the clinical understanding infection progression during follow-up treatment, thereby providing clinicians with supplementary tools optimized patient management. We developed new analysis method...
Comparative genomic hybridization microarrays for the detection of constitutional chromosomal aberrations is application microarray technology coming fastest into routine clinical application. Through genotype-phenotype association, it also an important technique towards discovery disease causing genes and genomewide functional annotation in human. When using a two-channel DNA probes array CGH, basic setup consists hybridizing patient against normal reference sample. Two major disadvantages...
We present our approach to rapidly establishing a standardized, multi-site, nation-wide COVID-19 screening program in Belgium. Under auspices of federal government Task Force responsible for upscaling the country's testing capacity, we were able set up national initiative with readily available resources, putting place robust, validated, high-throughput, and decentralized qPCR molecular platform embedded proficiency testing. demonstrate how during an acute scarcity equipment, kits, reagents,...