Article

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

2015-02-26

Abstract excerpt

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...

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Literature Corpus work: 08e5d7af-ca8c-566c-924c-04a438b568d2
DOI: 10.1101/015727

Open publication

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