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دانلود رایکان مقاله انگلیسی ISI با موضوع شناسایی ژن های عامل بیماری با استفاده از ارائه مبتنی بر وب معنایی

عنوان فارسی مقاله:

شناسایی ژن های عامل بیماری با استفاده از ارائه مبتنی بر وب معنایی تلفیق دانش ژنومیکی و فنومیکی

عنوان انگلیسی مقاله:

Identifying disease-causal genes using Semantic Web-based representation of integrated genomic and phenomic knowledge

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بخشی از مقاله انگلیسی :

3. Results

3.1. Benchmark of the method

To explore the feasibility of our approach in candidate gene prioritization, we randomly selected 60 diseases from a total of 423 CVD from OMIM database having at least one implicated gene with associated clinical synopsis. The algorithm was not provided with any explicit link between target gene and the disease to validate that our method detects the true functional relationship between the disease and the gene. For every OMIM disease from our dataset, we extracted the genes from the locus specified in the OMIM database. On an average we ensured that each list contained around 300 genes including the implicated gene. These gene lists are used to validate how efficient our approach can be in finding the real implicated gene from the other non-disease genes (300 genes) in that specific locus. The benchmark results were quite promising, since in 44 out of 60 cases (74%) the related gene is ranked in the top 10 and in 33 cases (55%) ranked in top 5.