Research ArticleGENETIC DIAGNOSIS

Effective diagnosis of genetic disease by computational phenotype analysis of the disease-associated genome

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Science Translational Medicine  03 Sep 2014:
Vol. 6, Issue 252, pp. 252ra123
DOI: 10.1126/scitranslmed.3009262

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  • New Approach to Effective Diagnoses

    The Zemojtel et al. paper can be extended to diagnosis of general not necessarily genetic diseases. The forerunner of the PhenIX software is the Exomiser software developed by Sanger Institute, which has been implemented by most NGS vendors. However, the output is a VCF file, which provides a list of SNPs for each individual patient with a disease to be diagnosed. Our observation is that machine learning can improve...

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    Competing Interests: None declared.

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