Mutations conferring susceptibility to complex disorders also occur in healthy individuals but at significantly lower frequencies than in patients, indicating that these mutations are not completely penetrant. Therefore, it is important to estimate the penetrance or the likelihood of developing a disease in presence of a mutation. Recently, a method to calculate penetrance and its credible intervals was developed on the basis of the Bayesian method and since been used in literature. However, in the present form, this approach demands programming skills for its utility. Here, we developed ‘CalPen’, a web-based tool for straightforward calculation of penetrance and its credible intervals by entering the number of mutations identified in controls and patients, and the number of patients and controls studied. For validation purposes, we show that CalPen-derived penetrance values are in good agreement with the published values. As further demonstration of its utility, we used schizophrenia as an example of complex disorder and estimated penetrance values for 15 different copy number variants (CNVs) reported in 39,059 patients and 55,084 controls, and 145 SNPs reported in 45,405 patients and 122,761 controls. CNVs showed an average penetrance of 7% with 22q11.21 CNVs having highest value (~20%) and 15q11.2 deletions with lowest value (~1.4%). Most SNPs, on the other hand showed a penetrance of 0.7% with rs1801028 having the highest penetrance (1.6%). In summary, CalPen is an accurate and user-friendly web-based tool useful in human genetic research to ascertain the ability of the mutation/ variant to cause a complex genetic disorder.
Optical Coherence Tomography Angiography Assessment of Macular Choriocapillaris and Choroid Following Panretinal Photocoagulation in a Diverse Population With Advanced Diabetic Retinopathy.
November 16, 2020
Social, demographic, health care and co-morbidity predictors of tuberculosis mortality in Amazonas, Brazil: a multiple cause of death approach.
January 30, 2020
Leveraging the Comparative Toxicogenomics Database to fill in knowledge gaps for environmental health: a test case for air pollution-induced cardiovascular disease.
July 16, 2020
August 10, 2020
- ACC 2020The American College of Cardiology decided to cancel ACC.20/WCC due to COVID-19, which was scheduled to take place March 28-30 in Chicago. However, ACC.20/WCC Virtual Meeting continues to release cutting edge science and practice changing updates for cardiovascular professionals on demand and free through June 2020.
- Psych Congress 2019The annual Psych Congress, held in San Diego, California, from October 3-6, 2019, brings together members of the entire mental health team, including psychiatrists, physician assistants, nurse practitioners, psychologists, and primary care physicians, with experts in mental health to improve patient outcomes through education.