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Phen-Gen: Combining Phenotype and Genotype to Analyze Rare Disorders

Asif Javed, Saloni Agrawal, Pauline C. Ng
doi: https://doi.org/10.1101/015727
Asif Javed
1Computational & Systems Biology, Genome Institute of Singapore, Agency for Science, Technology and Research, Singapore
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Saloni Agrawal
1Computational & Systems Biology, Genome Institute of Singapore, Agency for Science, Technology and Research, Singapore
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Pauline C. Ng
1Computational & Systems Biology, Genome Institute of Singapore, Agency for Science, Technology and Research, Singapore
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Abstract

We introduce Phen-Gen, a method which combines patient’s disease symptoms and sequencing data with prior domain knowledge to identify the causative gene(s) for rare disorders. Simulations reveal that the causal variant is ranked first in 88% cases when it is coding; which is 52% advantage over a genotype-only approach and outperforms existing methods by 13-58%. If disease etiology is unknown, the causal variant is assigned top-rank in 71% of simulations.

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Posted February 26, 2015.
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Phen-Gen: Combining Phenotype and Genotype to Analyze Rare Disorders
Asif Javed, Saloni Agrawal, Pauline C. Ng
bioRxiv 015727; doi: https://doi.org/10.1101/015727
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Phen-Gen: Combining Phenotype and Genotype to Analyze Rare Disorders
Asif Javed, Saloni Agrawal, Pauline C. Ng
bioRxiv 015727; doi: https://doi.org/10.1101/015727

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