CalPen (Calculator of Penetrance), a web-based tool to estimate penetrance in complex genetic disorders

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 di...

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Podrobná bibliografie
Vydáno v:	PloS one Ročník 15; číslo 1; s. e0228156
Hlavní autoři:	Addepalli, Aditya, Kalyani, Sakhare, Singh, Minali, Bandyopadhyay, Debashree, Naga Mohan, K.
Médium:	Journal Article
Jazyk:	angličtina
Vydáno:	United States Public Library of Science 29.01.2020 Public Library of Science (PLoS)
Témata:	Bayes Theorem Bayesian analysis Biology and Life Sciences Computer programming Copy number Disease susceptibility Diseases Disorders DNA Copy Number Variations - genetics Genetic aspects Genetic Diseases, Inborn - genetics Genetic disorders Genetic Predisposition to Disease - genetics Humans Internet Intervals Lubricants Mathematical analysis Medical research Medicine and Health Sciences Mental disorders Methods Models, Statistical Morbidity Mutation Penetrance Polymorphism, Single Nucleotide - genetics Research and Analysis Methods Schizophrenia Schizophrenia - genetics Single-nucleotide polymorphism Software Web site management software India
ISSN:	1932-6203, 1932-6203
On-line přístup:	Získat plný text
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