Sentences with phrase «of phenotype data»

Over time, many cohorts grow both in the number of participants and the amount of phenotype data collected.

Over several decades, thousands of sets of phenotype data from BXD mice have been collected into databases, ranging from coat color to lifespan.

Not exact matches

He said that there are a lot of misconceptions about his employer, and that he's had a few awkward conversations in which he's had to basically explain that his job — developing algorithms to analyze data about phenotypes and genetics — is not tantamount to throwing baby bunnies into a wood chipper.

First author Professor Martin Hrabe de Angelis, Director of Institute of Experimental Genetics at the Helmholtz Zentrum München, who invented the mouse clinic concept, said: «Our findings with regard to the genes examined are now available to the scientific community as a valid data set, which can be downloaded free of charge from the IMPC (International Mouse Phenotyping Consortium) website, and form an excellent basis on which we and other research groups can develop and test new hypotheses.»

To study gene expression, they then examined RNA sequencing data from 25 of the biliary - phenotype cancers and 44 hepatocellular cancers.

«Through social media, we're amassing huge amounts of data on ourselves, behaviorally and over time, that is leaving behind a kind of digital phenotype,» Wolff adds.

In The Lancet Diabetes & Endocrinology DZD scientists have now summarized information from the literature and have provided novel data indicating that in future the determination of the 4 major phenotypes fatty liver, visceral obesity and impaired production and action of insulin may help to improve prediction and prevention of cardiometabolic risk in prediabetes.

Harvard Medical School in Boston, which received a $ 9 million award in January to act as «coordinating center,» will facilitate collaboration between researchers and will make patient data widely available through public repositories such as NIH's database of Genotypes and Phenotypes, explained Anastasia Wise, director of NHGRI's Division of Genomic Medicine, at a press conference today.

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.

The data demonstrate that unique roles for IL - 15Rα and IL - 15 in vivo exist, since interruption of IL - 15 signaling by deletion of either IL - 15 or IL - 15Rα resulted in differing mouse phenotypes.

These data provide physiological evidence that loss of IL - 15Rα initiates muscle remodeling, whereby the fast EDL muscle displays a more fatigue - resistant phenotype, which was not observed in fast muscles from IL - 15 — KO mice or HSA - IL - 15TG mice.

Our data demonstrate that loss of IL - 15Rα results in a remodeling of fast skeletal muscles to a more oxidative phenotype that manifests as a greater exercise capacity and resistance to fatigue in mice due, in part, to adaptations in mitochondria — phenotypes that were only observed in IL - 15Rα — KO mice.

Quantification of several parameters confirmed altered morphology in fast skeletal muscles deficient in IL - 15Rα, and the data support the hypothesis that loss of IL - 15Rα promotes a slower, more oxidative muscle phenotype.

The IMI could also control and organize access to metadata (the associated host disease phenotype data, for a human gut microbiota sample, for instance) without which meaningful interpretation of the data is not possible.

Notably, XpdTTD / † XPCS animals had a partial TTD hair phenotype, correlating with low levels of Xpd † XPCS expression, whereas XpdTTD / XPCS animals had wt hair, correlating with normal expression levels from the viable XpdXPCS allele (Table 2 and unpublished data).

Taken together, these data are consistent with interallelic complementation of UV sensitivity in cells but underscore the lack of any correlation between UV - related repair characteristics and TTD progeroid phenotypes in animal models.

Finally, our data highlight the potential of clinically relevant alleles previously designated as null, with little or no detectable expression or activity, to nonetheless contribute to phenotype.

Harmonising ontological descriptions of phenotype in mouse and human and improving links between mouse model data and human data, using diabetes and obesity as examples, will increase the relevance of data that is generated in mouse studies for clinical studies.

RGC will provide these centers whole exome sequencing and genome - wide association (with phenotype, where applicable) data free - of - charge.

Support attendees in use of European and international resources for mouse phenogenomics (cryopreservation, distribution and phenotyping data lines already characterized and available to the scientific community).

Phenotype data from 449 mutant alleles were acquired, representing 320 unique genes, of which half had no previous functional annotation and data from over 27,000 mice were captured, finding that 83 % of the mutant lines are phenodeviant, with 65 % demonstrating pleiotropy.

More specifically, we use large - scale data acquisition and quantitative modelling of phenotypes and molecular profiles, systematic perturbations (such as drugs or high - throughput genetics) and computational analysis of non-linear, epistatic interaction networks.

If it were up to me, I'd select the subset of samples with the most extensive phenotype data — biomarkers, clinical measurements, RNA - seq, health records, etc..

The resulting data are being combined in a systems biology approach with high - resolution clinical phenotyping and findings obtained with a large array of established and novel in vitro, ex vivo and in vivo disease models to identify disease - associated genetic variants, disease - defining molecular signatures, and potential targets for therapeutic intervention.

Data analyses of the combined genotype - phenotype data (where applicable) will be performed collaboratively and each party will be free to: (i) use these datasets for its internal research; (ii) publish results; (iii) use published results for any and all purpoData analyses of the combined genotype - phenotype data (where applicable) will be performed collaboratively and each party will be free to: (i) use these datasets for its internal research; (ii) publish results; (iii) use published results for any and all purpodata (where applicable) will be performed collaboratively and each party will be free to: (i) use these datasets for its internal research; (ii) publish results; (iii) use published results for any and all purposes.

Phenotype ontologies aim to standardize the collection of phenotypic data to make them accessible to computer analysis.

Our data also demonstrated that chronic treatment with standard antidepressant medications, fluoxetine and imipramine was able to attenuate the distinct phenotype of stress - susceptible mice.

Current explorations into the molecular underpinnings of cell circuitry are leveraging multiple data types including expression profiling and epigenetic analysis leveraging RNA - seq and CHiP - Seq coupled with molecular markers and cellular phenotypes.

A similar discrimination of results from SSR or SNP genotyping based on D - samples (dead) and race phenotyping from live samples is under development for stem rust data.

Given the uniqueness of the clinical features, it stands to reason that an improved annotation of these features (deep phenotyping) as well as an interpretation of the genomic variants based on the existing knowledge associated with such clinical data should improve our diagnostic rate.

We have generated rich genomic datasets for the scientific community, including an expansive atlas of genetic associations with metabolites, whole - genome sequence and phenotype data for population cohorts in the UK10K project, as well as bioinformatic resources to facilitate the retrieval of information, including a metabolite network, a database of genotype - metabolite associations with our colleagues at the HelmHoltz institute, and a genome browser of UK10K association results.

These datasets include: the actual genome sequences of the 1,011 isolates; the list of 4,940 common «core» ORFs plus 2,856 ORFs that are variable within the population (together these make up the «pangenome»); copy number variation (CNV) data; phenotyping data for 36 conditions; SNPs and indels relative to the S288C genome; and much more.

Third, under the NIA AD Genetics Sharing Policy and the NIAGADS Data Distribution Agreement individual NIA funded investigators studying the genetics and the genomics of AD will provide their data to NIAGADS and the Database of Genotypes and Phenotypes (dbGaP), and in turn these data will be shared with the AData Distribution Agreement individual NIA funded investigators studying the genetics and the genomics of AD will provide their data to NIAGADS and the Database of Genotypes and Phenotypes (dbGaP), and in turn these data will be shared with the Adata to NIAGADS and the Database of Genotypes and Phenotypes (dbGaP), and in turn these data will be shared with the Adata will be shared with the ADSP.

She has provided important data on the clinical phenotypes and natural history of many genetic syndromes.

The mission of PHENOMIN - ICS is to initiate and promote relevant research and development programs to be at the edge of technology in the areas of mutagenesis, phenotyping, bio-informatics and analysis data.

Following expiry of an optional grace period, phenotype data will ultimately be made publicly available through a phenotyping database

«We have preliminary data suggesting that gland phenotypes themselves evolve, and that patients at risk of developing cancer show an increased diversity of gland types.»

The technical evaluation of projects may require the provision of additional data such as information on the genetic modification of your mutant mouse line if applicable (e.g. affected gene, MGI ID of the gene, type of mutation, ES - cell line used, genetic background (e.g. number of backcross generations), safety level, description of DNA modification, vector, remaining non-recipient DNA, donor organism), mutant phenotype (s), special housing or care requirements, current sanitary status, and intellectual property rights (who generated the mouse line, owner of the mouse line)

Summary: A one day symposium to introduce the IMPC to the Japanese science community and pharmaceutical industry, and to discuss how to utilise IMPC phenotyping data and IKMC resources Attended by: Invited IMPC members and representatives of the Japanese science and pharmaceutical communities Hosted / funded by: RIKEN BRC

From 2008 - 2010, he was supported by the CGGH to study phenotypic variation in the drug sensitivity of Plasmodium falciparum isolates collected Kilifi District, and to investigate genotype - phenotype associations using genome sequencing data generated on these isolates at the Wellcome Trust Sanger Institute.

They took 5,694 curated genotype - phenotype associations from the NHGRI GWAS catalog (comprising 4,724 unique SNPs associated with 470 different phenotypes), and performed a functional annotation of those variants using data from ENCODE and other sources.

Test each mutant mouse line (4,000 mouse lines in the first 5 years, and ultimately up to 20,000) through a broad based primary phenotyping pipeline in all the major adult organ systems and most areas of major human diseases.Through this activity and employing data annotation tools, systematically aim to discover and ascribe biological function to each gene, driving new ideas and underpinning future research into biological systems.

The study, integration and analysis of these data increasingly allows to unravel the genetic mechanisms and networks underlying complex biological phenotypes paving the way for an era of «genomic medicine,» in which new diagnostic and therapeutic approaches to common multifactorial conditions are emerging.

First, they took the SNPs that were reported to be associated with a phenotype, and found that ~ 45 % of them overlap at least some ENCODE data:

Other pilot projects in the ELIXIR construction phase are exploring aspects of virtual machine, continuous transfer of major archive resources, simplification of authentication of data for European Genotype Phenotype Archive (EGA) and shared responsibility for production of the EGA.

During the course of the EUMODIC project the pipeline for phenotyping, SOPs and data analyses were continuously optimized to use the fewest number of animals possible.

He is currently head of the Ensembl project and has held leadership roles in data management activities for the 1000 Genomes Project, the International Human Epigenome Consortium (IHEC) and the International Mouse Phenotyping Consortium (IMPC).

Having investigated the different representations of phenotypes, she applies this knowledge to data integration and human genetic disorders with the aim of improving the understanding about the molecular mechanisms underlying human diseases.

The authors also leveraged our current knowledge of gene - phenotype relationships, and the comprehensive nature of WGS data, to identify three pathogenic noncoding variants.

This work package is aimed at harmonising ontological descriptions of phenotypes in mouse and human, consequently improving the links between mouse and human data.