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 Javed, Asif
A1 Agrawal, Saloni
A1 Ng, Pauline C.
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.