RT Journal Article SR Electronic T1 Phen-Gen: Combining Phenotype and Genotype to Analyze Rare Disorders JF bioRxiv FD Cold Spring Harbor Laboratory SP 015727 DO 10.1101/015727 A1 Asif Javed A1 Saloni Agrawal A1 Pauline C. Ng YR 2015 UL http://biorxiv.org/content/early/2015/02/26/015727.abstract AB 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.