Sentences with phrase «phenotype data from»

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.

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.

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

The phenotyping data from comprehensive screen will be published on a public database and accessible to the whole scientific community.

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.»

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

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.

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.

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.

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).

Personalised Medicine initiatives will benefit greatly from this emerging data and biological resources which can be used to detect novel genotype - to - phenotype associations in diseases.

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.

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.

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.

~ 5000 clinical phenotypes and transcriptome data from more than 30 tissues of the BXD population were added in our database.

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

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.

5) The interpretation of the egress data in Figure 4E / F is highly speculative because distance from HEVs can not be assigned to an egress phenotype.

«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.»

Third, the use of SEM has allowed us to examine both within and across - phenotype relationships of PEs and depressive symptoms over time whilst minimising problems arising from correlated data.