caa a22 4500 605544662 CHVBK 20210128100932.0 cr unu---uuuuu 210128e20150801xx s 000 0 eng 10.1007/s10897-015-9821-0 doi (NATIONALLICENCE)springer-10.1007/s10897-015-9821-0 VanDerwerken Douglas Department of Statistical Science, Duke University, 27707, Durham, NC, USA aut Bayesian Assessment of Genetic Risk in Families with a Balanced Translocation [Elektronische Daten] [Douglas VanDerwerken] An important problem from the field of genetics involves the calculation of a personalized risk estimate on behalf of a heterozygous carrier of a balanced translocation. Though phenotypically normal, the carrier may be at increased risk of having a child who is mentally and physically abnormal due to an unbalanced translocation of chromosomal segments. An accurate estimate of the probability of this event is understandably desirable. Unfortunately, translocations are almost always family-specific so there is very little data that are perfectly relevant and one has to rely heavily on general risk figures derived from studies of families with similar translocations. This makes the problem particularly well suited to Bayesian analysis, which coherently combines family-specific data and a priori knowledge. However, much of the genetics counseling literature recommends an either/or approach: if the family is large enough, use family data; else, use pooled population data. In this article, we describe how uncertainty can be significantly reduced by incorporating all available information in the context of deriving a risk estimate for a hypothetical familial translocation. National Society of Genetic Counselors, Inc., 2015 Balanced translocation nationallicence Bayes' rule nationallicence Chromosomal abnormalities nationallicence Personalized risk assessment nationallicence Journal of Genetic Counseling Springer US; http://www.springer-ny.com 24/4(2015-08-01), 541-547 1059-7700 24:4<541 2015 24 10897 https://doi.org/10.1007/s10897-015-9821-0 text/html Onlinezugriff via DOI BK010053 XK010053 XK010000 Metadata rights reserved Springer special CC-BY-NC licence nationallicence 1 research-article jats NATIONALLICENCE NATIONALLICENCE NL-springer NATIONALLICENCE 856 40 https://doi.org/10.1007/s10897-015-9821-0 text/html Onlinezugriff via DOI NATIONALLICENCE 100 1- VanDerwerken Douglas Department of Statistical Science, Duke University, 27707, Durham, NC, USA aut NATIONALLICENCE 773 0- Journal of Genetic Counseling Springer US; http://www.springer-ny.com 24/4(2015-08-01), 541-547 1059-7700 24:4<541 2015 24 10897