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.
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.
Not exact matches
Those
data were then combined with information about functional changes in cell behavior to develop a nanomechanical profile, or
phenotype,
for specific cellular states.
Since 2007, the GWAS policy has governed biomedical researchers» submission and access to human
data through the NIH database
for Genotypes and
Phenotypes (dbGaP).
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.
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.
This consortium developped new statistical methods
for pipeline design and
data analysis aimed at detecting reproducible
phenotypes with high power.
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.
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).
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 purpo
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 purpo
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 purposes.
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.
«We are trying to combine them all to model and analyze those
data types jointly, looking at multiple
phenotypes simultaneously and looking
for possible environmental factors.»
For example, 2013 saw studies showing that transplanting human fecal microbiota into mice could induce obesity and its associated metabolic
phenotypes, and human
data from a controlled study suggesting the procedure could treat recurrent C. difficileinfection.
When coupled with
phenotype data, such cohorts also provide greater power to study rare, deleterious variants in populations enriched
for them.
When a cohort was provided
for phenotyping, resulting
phenotype data will be available to applicants within 9 months.
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.
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).
There are already well established databases within the consortium, the London Pain Database (LPD) and QUAST (DFNS, Germany): The LPD is used
for datamining of functional genomics
data to help identify individual genes and functional networks associated with chronic pain, QUAST on the other hand collects questionnaire
data, clinical and neurophysiological findings and calculates valid clusters of
phenotypes with different interaction patterns of sensory loss with and without different types of peripheral and central hyperalgesia based on QST (quantitative sensory testing)
data.
For each mouse line, Lexicon provided not only the mouse strain itself, but also detailed, objective
data on the impact of the specific gene deletion on the mouse's
phenotype, which includes appearance, health, fitness, behavior, ability to reproduce, and radiological and microscopic
data.
The database will allow users to view and download computed GTEx results and provide a controlled access system
for de-identified individual - level genotype, expression, and clinical
data through NCBI's database of Genotypes and
Phenotypes, at http://www.ncbi.nlm.nih.gov/gap.
For each mouse line, Deltagen provided the mouse strain, but also detailed, objective
data on the impact of the specific gene deletion on the mouse's
phenotype, which includes appearance, health, fitness, behavior, ability to reproduce, and radiological and microscopic
data.
Third, as the
phenotyping phase of IKMC begins, care must be taken when comparing new behavioral
data from B6N substrains with existing
data from B6J, particularly
for behavioral
phenotypes (Kumar et.
The Mammalian
Phenotype Ontology as a unifying standard
for experimental and high - throughput
phenotyping data
We thank the breeders and owners of Swedish vallhund dogs worldwide
for their permission to collect
phenotype data as well as
for the generous donation of blood and tissue samples.
This greater risk of psychopathology is also likely to extend to other
phenotypes associated with the opioid and serotonin systems
for which there is less available
data, such as antisocial behavior and substance abuse.
Furthermore, a cross-trait cross-twin association between stress reactivity and subclinical psychosis was found, indicating that emotional reactivity to stress may be an unconfounded intermediate
phenotype associated with genetic risk
for psychosis (T. Lataster, M. Wichers, N. Jacobs, et al, unpublished
data).