Sentences with phrase «human phenotype»

It's no secret that while genome - wide association studies (GWAS) have implicated thousands of genetic loci in human phenotypes, the variants uncovered collectively explain only a fraction of the observed variance between individuals.

Zhu F, Dollé ME, Berton TR, Kuiper RV, Capps C, Espejo A, McArthur MJ, Bedford MT, van Steeg H, de Vries A, Johnson DG (2010) Mouse models for the p53 R72P polymorphism mimic human phenotypes.

Dartmouth researchers developed a new biological pathway - based computational model, called the Pathway - based Human Phenotype Network (PHPN), to identify underlying genetic connections between different diseases as reported in BioDataMining this week.

Her first research internship was at the Comparative Genomics group of the Radboud University where she, under supervision of Martijn Huynen, made a computational tool that prioritizes genes based on human phenotypes.

This data is made even more impactful due to its rich annotations which allow it to be mapped to annotated human phenotype data (via HPO mappings, as shown in the DIAB ontology).

The ORDO and Human Phenotype Ontology (HPO) developers are working on integrating both ontologies and annotating Orphanet's phenome types with appropriate HPO terms (see also Monarch Initiative).

Since gene discovery is only the very first step towards the understanding of human phenotypes we have much ground to cover.

The reversal suggests that smaller changes in multiple genes may have been the primary driver of changes in human phenotypes, and that new models are needed to retrace the genetic steps of evolution.

The Orphanet Rare Disease Ontology (ORDO) and the Human Phenotype Ontology (HPO) are considered the most relevant ontologies to be used in the rare disease research and, more specifically, in RD - Connect.

The Human Phenotype Ontology project: linking molecular biology and disease through phenotype data.

Phenotypic data The Platform matches individuals» sequencing data with detailed clinical information about his / her symptoms (deep phenotyping), which are stored in the Human Phenotype Ontology (HPO) format in the PhenoTips database.

The costs of treating the MS are clearly growing, and it is no surprise that the research community is seeking animal models that mimic the human phenotype so that potential therapies can be tested.

The Human Phenotype Ontology: a tool for annotating and analyzing human hereditary disease.

Human phenotype ontology.