Statistical Methods for Analysis of Neurofibromatosis Clinical Data

摘要

The large phenotypic variability of NFl and NF2 complicates clinical management compounds analysis of clinical treatment trials limits the prognostic value of genetic counseling and adds substantially to the burden of the disease. The goals of this project are to devise new statistical methods to find patterns and relationships within the phenotypes and genotypes of people with NF, and to effectively model tumor formation in these disorders. In this way, we hope to be able to provide methods to better predict phenotype, enhance the effectiveness of genetic counseling and clinical screening, and aid in analysis of clinical trials' results. This project describes research in statistical methods that would be useful for statistical modelling and analysis of clinical data from NFl and NF2 subjects. The statistical methods are classified into the areas: (a) estimation of familial correlation for different types of data, (b) assessment of multi-hit mutation models for incidence of tumors.