Sentences with word «phenome»

The RD - Connect Genome - Phenome Analysis Platform distinguished as a recognized resource by the International Rare Diseases Research...
For example, she studied brain activity and speech in a group of teenagers before, and three years after they entered high - school, and found music training in school significantly improved the auditory processing of phenomes (speech sounds) and had lasting effects on language skills.
As a director's fellow on the Open Phenome Project, she works with engineers, biologists, and architects, studying how environmental conditions such as temperature affect the production of plant flavor molecules.
In combination, we employed deep phenome data consisting of ~ 5,000 phenotypic traits, and more than 200 transcriptome, proteome, and metabolome datasets for the BXD population — by far the largest coherent multi-omics data assembled for any experimental cohort — as the foundation to identify the genetic architecture underlying complex traits and diseases.
In short, the BXD phenome is a perfect resource for modeling human populations for genetic studies.
That complexity perhaps explains why there is as yet no «human phenome project», though such a thing was first mooted in 2003.
But smaller - scale projects such as the Mouse Phenome Database are now springing up.
«These rich and large phenome data remain, however, largely unexploited, as they are difficult to access and the tools to analyze them require advanced skills,» says Johan Auwerx, whose lab at EPFL led the study with colleagues from Germany, Netherlands, and the US, as well as EPFL professors Kristina Schoonjans and Stephan Morgenthaler.
The ORDO and Human Phenotype Ontology (HPO) developers are working on integrating both ontologies and annotating Orphanet's phenome types with appropriate HPO terms (see also Monarch Initiative).
World Endometriosis Research Foundation Endometriosis Phenome and Biobanking Harmonisation Project: IV.
Jeremy Nicholson of Imperial College London is heading up the U.K.'s government - funded phenome center, which will undertake population - scale metabolic phenotyping and profiling.
Wednesday, Oct. 18, 9:45 - 10:00 a.m., Room 330A, South Building Platform Presentation: Large - scale phenome - wide scan in twins helps identify candidate variants associated with seborrheic keratosis S. Hebbring, Marshfield Clinic Research Institute, et al
131/5: 00 Phenome - wide association study provides biologic insights into the etiology of age - related macular degeneration.
The exhibition explores the psychological and emotional impact of artworks that, through concept or formal material qualities, hint at larger, elemental phenome
The CNAG - CRG plays a central role in the RD - Connect EU funded project through the development and hosting of the RD - Connect Genome - Phenome Analysis Platform.
Thanks to recent advances in high - throughput phenotyping, the size and variety of the BXD phenome has increased exponentially since 2010, to ~ 5,000 quantitative clinical phenotypes as of December 2016 (Figure 2, detailed list could be downloaded here).
By combining each mouse's genome, phenome, proteome and metabolome, the scientists were able to identify a particular gene, located on their chromosome 2, and whose presence plays an important role in the development of type 2 diabetes «The mice with a high - fat diet are more or less likely to develop diabetes depending on whether this gene is active or not,» said Evan Williams, LISP PhD student and the article's co-first author.
In Lausanne, the researchers carried out a detailed study of the genome and the «phenome» (the set of all phenotypes or clinical features) of a family of mice composed by 183 members.
We need to get to grips with the «phenome»: the sum total of all traits, from genes to behaviour, that make up a living thing.
Already, some researchers are pushing for a «great ape «phenome» project» to match the incoming tide of genomic data with more phenotypic information on apes.
The phenome is the entire collection of traits those genes give rise to.
Phenome is a twist on genome.
By going gene hunting in the Phenome Room, Jackson Laboratory scientists hope to steer their colleagues away from the search for single genes in favor of hunting for gene networks.
Scientists who work in the Phenome Room chronicle each mouse's life in excruciating detail.
I haven't, so I am allowed into the lab's remarkable inner sanctum — the Phenome Room, a small windowless space the size of a studio apartment.
By now, the BXD community has gathered around 300 million phenotype data points from these animals, generating by far the largest coherent «phenome» (a set of all phenotypes expressed in an organism) for any animal experimental cohort.
This will provide interoperability between projects such as RD - Connect and Decipher which use the HPO and will drive the revision of the phenome hierarchy once HPO terms have been integrated.
To address this challenge, the International Mouse Phenotyping Consortium (IMPC) is creating a genome - and phenome - wide catalogue of gene function by characterizing new knockout - mouse strains across diverse biological systems through a broad set of standardized phenotyping tests.
The RD - Connect Genome - Phenome Analysis Platform, developed and hosted at the CNAG - CRG, securely integrates - omics data with clinical information, providing not only a centralized data repository but also a sophisticated and user - friendly online analysis system.
The project will also benefit from the RD - Connect Genome - Phenome Analysis Platform developed at CNAG - CRG; in this case, it will be used to collate existing and newly generated genomic and phenotypic data.
The RD - Connect Genome - Phenome Analysis Platform has been accepted by the International Rare Diseases Research Consortium (IRDiRC) as a Recognized Resource.
The RD - Connect Genome - Phenome Analysis Platform distinguished as a recognized resource by the International Rare Diseases Research Consortium.
ePheWAS, a way to identify associations between gene transcript or protein levels and phenome was updated.
The data stored on the Genome - Phenome Analysis Platform can be accessed only by the authorised scientists and clinicians who underwent the registration and verification process.
To learn more, see the Genome - Phenome Analysis Platform Registration Guide.
The RD - Connect Genome - Phenome Analysis Platform is an online tool for diagnosis and gene discovery in rare disease research.
The RD - Connect Genome - Phenome Analysis Platform is currently focusing on genomics, and allows researchers to analyse NGS data (which includes Whole Genome and Whole Exome Sequencing as well as panel data) in combination with phenotype data.
These include variant analysis and annotation tools as well as therapeutic prediction tools and gene - drug interaction resources, many of which are integrated in the Genome - Phenome Analysis Platform.
Thursday, Oct. 19, 5:45 - 6:15 p.m., Room 330C, South Building Invited Presentation: Assessing the phenome - wide consequences of genetically regulated molecular traits H. Im, University of Chicago, et al
a b c d e f g h i j k l m n o p q r s t u v w x y z