AMIA Annu Symp Proc - Similarity-based disease risk assessment for personal genomes: proof of concept.

Tópicos

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{ detect(2391) sensit(1101) algorithm(908) }

Resumo

The increasing availability of personal genome data has led to escalating needs by consumers to understand the implications of their gene sequences. At present, poorly integrated genetic knowledge has not met these needs. This proof-of-concept study proposes a similarity-based approach to assess the disease risk predisposition for personal genomes. We hypothesize that the semantic similarity between a personal genome and a disease can indicate the disease risks in the person. We developed a knowledge network that integrates existing knowledge of genes, diseases, and symptoms from six sources using the Semantic Web standard, Resource Description Framework (RDF). We then used latent relationships between genes and diseases derived from our knowledge network to measure the semantic similarity between a personal genome and a genetic disease. For demonstration, we showed the feasibility of assessing the disease risks in one personal genome and discussed related methodology issues.

Resumo Limpo

increas avail person genom data led escal need consum understand implic gene sequenc present poor integr genet knowledg met need proofofconcept studi propos similaritybas approach assess diseas risk predisposit person genom hypothes semant similar person genom diseas can indic diseas risk person develop knowledg network integr exist knowledg gene diseas symptom six sourc use semant web standard resourc descript framework rdf use latent relationship gene diseas deriv knowledg network measur semant similar person genom genet diseas demonstr show feasibl assess diseas risk one person genom discuss relat methodolog issu

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