BayesMendel: an R environment for Mendelian risk prediction.

Statistical Applications in Genetics and Molecular Biology
Sining ChenGiovanni Parmigiani

Abstract

Several important syndromes are caused by deleterious germline mutations of individual genes. In both clinical and research applications it is useful to evaluate the probability that an individual carries an inherited genetic variant of these genes, and to predict the risk of disease for that individual, using information on his/her family history. Mendelian risk prediction models accomplish these goals by integrating Mendelian principles and state-of-the-art statistical models to describe phenotype/genotype relationships. Here we introduce an R library called BayesMendel that allows implementation of Mendelian models in research and counseling settings. BayesMendel is implemented in an object-oriented structure in the language R and distributed freely as an open source library. In its first release, it includes two major cancer syndromes: the breast-ovarian cancer syndrome and the hereditary non-polyposis colorectal cancer syndrome, along with up-to-date estimates of penetrance and prevalence for the corresponding genes. Input genetic parameters can be easily modified by users. BayesMendel can also serve as a generic tool for genetic epidemiologists to flexibly implement their own Mendelian models for novel syndromes and local...Continue Reading

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Citations

Nov 28, 2012·Breast Cancer Research and Treatment·Emanuele MazzolaGiovanni Parmigiani
Jun 25, 2013·Breast Cancer Research and Treatment·Jonathan ChipmanPhil Bosinoff
Dec 9, 2008·BMC Genetics·Almoutassem B ZetouneSylvie Mazoyer
Jan 19, 2006·Breast Cancer Research : BCR·Antonis C AntoniouUNKNOWN INHERIT BRCAs program members
Jan 21, 2016·Breast Cancer Research and Treatment·Swati BiswasGiovanni Parmigiani
Mar 2, 2016·Journal of Medical Genetics·Karin KastUNKNOWN German Consortium for Hereditary Breast and Ovarian Cancer (GC-HBOC)
May 3, 2014·TheScientificWorldJournal·Marcin Czajkowski, Marek Kretowski
Mar 28, 2013·Advances in Bioinformatics·Navadon Khunlertgit, Byung-Jun Yoon
Dec 25, 2013·Computational and Mathematical Methods in Medicine·Hongya ZhaoJianguo Dai
Feb 18, 2006·Journal of Clinical Oncology : Official Journal of the American Society of Clinical Oncology·Sining ChenGiovanni Parmigiani
Apr 10, 2007·Journal of Clinical Oncology : Official Journal of the American Society of Clinical Oncology·Sining Chen, Giovanni Parmigiani
Apr 10, 2007·Journal of Clinical Oncology : Official Journal of the American Society of Clinical Oncology·Wenyi WangAlison P Klein
May 20, 2015·Cancer Informatics·Emanuele MazzolaSwati Biswas
Mar 18, 2010·European Journal of Human Genetics : EJHG·Ines ZannaLaura Ottini
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May 10, 2008·Breast Cancer Research : BCR·Yu Chuan TaiAlison P Klein
Dec 17, 2008·Journal of Clinical Oncology : Official Journal of the American Society of Clinical Oncology·Sining ChenGiovanni Parmigiani
Feb 4, 2009·Journal of Clinical Oncology : Official Journal of the American Society of Clinical Oncology·Dezheng HuoOlufunmilayo I Olopade
Jan 25, 2012·Breast Cancer Research and Treatment·Swati BiswasBanu Arun
Oct 31, 2012·Journal of Clinical Oncology : Official Journal of the American Society of Clinical Oncology·Sarah SawyerPaul A James
Feb 6, 2020·PloS One·Parichoy Pal ChoudhuryNilanjan Chatterjee
May 22, 2013·Breast Cancer Research and Treatment·Swati BiswasGiovanni Parmigiani
Oct 2, 2020·Genetic Epidemiology·Margaux L A HujoelDanielle Braun
Aug 11, 2018·Journal of the American Statistical Association·Danielle BraunGiovanni Parmigiani
Jun 9, 2020·Genetic Epidemiology·Theodore HuangDanielle Braun
Mar 29, 2014·Journal of the American Statistical Association·Malka GorfineGiovanni Parmigiani
Dec 18, 2015·Cancer Epidemiology, Biomarkers & Prevention : a Publication of the American Association for Cancer Research, Cosponsored by the American Society of Preventive Oncology·Gillian S DiteJohn L Hopper
Dec 16, 2011·Cancer Epidemiology, Biomarkers & Prevention : a Publication of the American Association for Cancer Research, Cosponsored by the American Society of Preventive Oncology·Aung Ko WinMark A Jenkins
Feb 1, 2017·Cancer Epidemiology, Biomarkers & Prevention : a Publication of the American Association for Cancer Research, Cosponsored by the American Society of Preventive Oncology·Gang PengWenyi Wang
Jun 4, 2014·Cancer Epidemiology, Biomarkers & Prevention : a Publication of the American Association for Cancer Research, Cosponsored by the American Society of Preventive Oncology·Emanuele MazzolaGiovanni Parmigiani
Jan 6, 2021·Annals of Surgical Oncology·Tanir M AllweisMichal Guindy
Mar 30, 2021·Journal of Breast Imaging·Geunwon Kim, Manisha Bahl

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