Skip to main content

Monarch presenting at ASHG 2014, Oct 18-22, San Diego

We'll be heading to American Society for Human Genetics 2014 conference in San Diego, October 18-22. Please check out our work in the following sessions:
  • 170. PhenomeCentral: An integrated portal for sharing patient phenotype and genotype data for rare genetic disorders. Mon Oct 20 5:30p. Concurrent Platform Session C: From Bytes To Phenotypes. Hall B1, Ground Level, Convention Center
    Michael Brudno will present the new data sharing portal PhenomeCentral, which facilitates the identification of phenotypically similar patients, utilizing the Human Phenotype Ontology (HPO) for linking patient phenotypes. Monarch contributes the API for the Annotation Sufficiency metric, actively develops on the HPO, and has provided user testing and documentation. Cases from our work with the NIH Intramural Undiagnosed Disease Program (UDP) have been deposited into PhenomeCentral.
  • 1499T. Standardized phenotyping enables rapid and accurate prioritization of disease-associated and previously unreported sequence variants. Tue Oct 21 2-3pm.
    William Bone will present our work with the NIH UDP, particularly about the use of Exomiser 2.0 as a rapid and effective method to screen for variants. The updated algorithm uses a combination of disease-gene and model organism phenotypes, together with protein-protein associations for candidate prioritization.
  • 1643T. Phenotype terminologies in use for genotype-phenotype databases: A common core for standardisation and interoperability. Tue Oct 21 2-3pm.
    Peter Robinson will present the efforts to develop a core terminology of phenotypes that is interoperable with all terminologies in current use including PhenoDB, London Dysmorphology Database, Orphanet, Human Phenotype Ontology, Elements of Morphology, ICD10, UMLS, SNOMED CT, MeSH, and MedDRA.
We will also be spending time at the Global Alliance for Genomics and Health pre-meeting, where we will participate in the Data and Clinical working group breakout sessions on metadata and ontologies.

Popular posts from this blog

Finally, a medical terminology that patients, doctors, and machines can all understand.

By Nicole Vasilevsky, Mark Engelstad, Erin Foster, Julie McMurry, Chris Mungall, Peter Robinson, Sebastian Köhler, Melissa Haendel
For many patients with rare and undiagnosed diseases, getting an accurate diagnosis, or even finding the appropriate experts is a long and winding road. To accelerate and facilitate this process, we developed a medical vocabulary (“HPO”) which is comprised of 12,000 terms that doctors can use to codify the precise and distinct observations about patients and their conditions. The HPO is structured in a way that enables machines to intelligently compare a patient’s profile with what scientists worldwide have already uncovered about diseases and their genetic causes.
Until now, most of the HPO labels and synonyms were composed of clinical terms unfamiliar to patients. For example, a patient may know they are ‘color-blind’, but may not be familiar with the clinical term ‘Dyschromatopsia’. This is why we developed a layer of 5,000 corresponding terms that can b…

Why cross-species phenomics informatics is critical to the PMI

Genomics, electronic health records, participant-provided data, sensors, and mobile health technologies can all contribute to personalized medicine. However, we currently cannot achieve statistical correlations amongst these almost unlimited number of parameters that will be collected by the PMI and the depth of mechanistic understanding that will be required for treatment stratification and the development of novel, targeted therapies. The promise of personalized medicine requires deep knowledge of the relationships between genotype, phenotype, and environmental variables - but we simply don’t have enough data. For example, in the ExAC database there are 3,230 genes with near-complete depletion of predicted protein-truncating variants, where 72% of these genes having no currently established human disease phenotype. If we look across organisms, we see that of these 2311 genes with unknown causal phenotypes/diseases, 88% have an associated phenotype in an ortholog, with 56% having or…

Save the Date: Symposium on Linking Disease Model Phenotypes to Human Conditions

Monarch is co-hosting a NIH Symposium titled “Linking Disease Model Phenotypes to Human Conditions” on September 10-11, 2015 at the Fishers Lane Auditorium, NIH, Rockville, MD. 
The purpose of the meeting is to convene a colloquium on the current status of Phenomics and its role in closing the gap that exists between biomedical research and clinical medical practice. The wealth of whole organism, cellular, and molecular data generated in the research laboratory must be translated into clinically relevant knowledge that enables the physician to make the best possible treatment decisions. Phenomics is gaining momentum due to the availability of the complete genomes for many organisms as well as higher throughput methods to genetically modify model organism genomes and observe and record phenotypes. Disease models comprise some of the most important tools of biomedical research. The efficacy of the use of disease models is based upon the principles of evolutionary conservation between sp…