Sentences with phrase «with phenotype data»

When coupled with phenotype data, such cohorts also provide greater power to study rare, deleterious variants in populations enriched for them.

Not exact matches

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.»

Those data were then combined with information about functional changes in cell behavior to develop a nanomechanical profile, or phenotype, for specific cellular states.

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/ XPCS animals had wt hair, correlating with normal expression levels from the viable XpdXPCS allele (Table 2 and unpublished data).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.

This consortium developped new statistical methods for pipeline design and data analysis aimed at detecting reproducible phenotypes with high power.

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.

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

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.

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.

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.

«Our data suggest that early - stage HER2 - positive breast cancers treated with neoadjuvant combination docetaxel, carboplatin, and trastuzumab with or without pertuzumab demonstrate tumor immune microenvironment phenotype changes,» the authors concluded.

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.

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.

Gene - to - phenotype associations are made by a versioned statistical analysis with all data freely available.

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.

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:

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.

This project produced data demonstrating that 185 CHIKV sequences associated with the 2014 Caribbean outbreak segregate into 2 well - supported clades, that multiple phylogenetic subclades are associated with clinical phenotypes, and that multiple international transmission events were observed.

Finding just a single additional case with a deleterious variant in the same gene and overlapping phenotype may provide sufficient evidence to identify the causative gene, but today, case data sits in isolated databases.

In the current study using 3D MRI data in a larger sample (N = 5,388), multiple SNPs showed significant association with multiple facial phenotypes, even after an over-conservative Bonferroni correction.

Phenomap employs semantic web technologies to enable the integration of systemic phenotype mouse data from IMPC, MGI together with data from single mouse clinics.

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.

On October 5, 2005, NIH announced that contracts had been signed with two companies, Deltagen, Inc. and Lexicon Genetics, Inc., to provide knockout mouse lines and extensive phenotyping data on them to NIH.

To better define the phenotype associated with pathogenic RASGRP2 variants, we compared high - throughput sequencing and phenotype data from 2,042 cases in pedigrees with unexplained bleeding or platelet disorders to data from 5,422 controls.

On October 5, 2005, NIH announced that contracts had been signed with two companies, Deltagen, Inc. and Lexicon Genetics, Inc. (now Lexicon Pharmaceuticals), to provide knockout mouse lines and extensive phenotyping data on them to NIH.

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 recent paper from the Aguirre lab makes many of the same observations that have already been made, regarding genotype - phenotype discordance and abnormal cone function in ins / ins dogs, and these data, although consistent with previous published reports, are not novel findings.»

With access to data on up to 10,000 families, the consortium aims to use a combination of whole - genome sequencing and whole - exome sequencing to identify and validate further at - risk genes and clarify genotype - phenotype relationships [53].

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).