Phen-Gen: combining phenotype and genotype to analyze rare disorders
Phen-Gen: combining phenotype and genotype to analyze rare disorders
复制标题
DOI：
10.1038/nmeth.3046
复制
发表时间：
2014-09-01
期刊：
影响因子：
48
通讯作者：
Ng, Pauline C.
中科院分区：
文献类型：
--
作者：
Javed, Asif;Agrawal, Saloni;Ng, Pauline C.
我们介绍了Phen-Gen，一种将患者的疾病症状和测序数据与先前的领域知识相结合的方法，以识别罕见疾病的致病基因。模拟显示，当因果变异是编码变异时，它在88%的情况下排名第一，比仅基因型方法有52%的优势，Phen-Gen比其他现有的预测方法有13- 58%的优势。如果疾病病因不明，则在71%的模拟中，因果变异被分配为最高等级。Phen-Gen可在http://phen-gen.org/上获得。
We introduce Phen-Gen, a method that combines patients' disease symptoms and sequencing data with prior domain knowledge to identify the causative genes for rare disorders. Simulations revealed that the causal variant was ranked first in 88% of cases when it was a coding variant a 52% advantage over a genotype-only approach and Phen-Gen outperformed other existing prediction methods by 13-58%. If disease etiology was unknown, the causal variant was assigned the top rank in 71% of simulations. Phen-Gen is available at http://phen-gen.org/.