Sentence examples for detailed phenotyping from inspiring English sources

The goals of EPGP are (1) to perform detailed phenotyping on 3750 participants with specific forms of non-acquired epilepsy and 1500 parents without epilepsy, (2) to obtain DNA samples on these individuals, and (3) to ultimately genotype the samples in order to discover novel genes that cause epilepsy.

The second initiative is the LifeLines NEXT cohort, which includes 1,500 pregnant women and their newborns and performs detailed phenotyping across the first year of life to study the development and maturation of the gut microbiome and virome and the impact of genetics and environmental factors on the developing microbial ecosystem.

The traits were measured at two levels: "global phenotyping" performed on all 1936 challenged animals and "detailed phenotyping" performed on a subset of 176 animals (Fig.  1).

Detailed phenotyping included LS (duodenum and jejunum), OC, BC and PPP.

There was also detailed phenotyping for potential confounding or mediating factors.

Detailed phenotyping, including retinal imaging and audiological assessment, was performed in individuals with two likely disease-causing USH2A variants.

Detailed phenotype and sample information for each study and association results for each genetic marker were extracted.

We reviewed medical records and, where possible, interviewed parents and treating physicians using a structured, detailed phenotype inventory focusing on the neonatal presentation and subsequent course.Nine patients had encephalopathy from birth and presented with prominent startle-like myoclonus, which could be triggered by sound or touch.

It has to be noted that several datasets represented in DIVAS do not provide detailed phenotypes.

Detailed phenotypes of the affected individuals are given in Supplementary Figure S1 (at http://www.clinsci.org/cs/126/cs1260721add.htm).htm

OVA employs The Human Phenotype Ontology to facilitate detailed phenotypes queries in addition to previously described diseases, enabling prioritization for novel diseases.