STATISTICAL MODEL BUILDING IN GENETICS

In the beginning of this long-standing project,data analysis and standard statistical methods have dominated my efforts. Our research in Forsius´ group has been recognised. I.a. Acta Ophthalmologica Scandinavica has awarded its prize (medal and diploma) for the year 2000 to the article Forsius et al. (1998) as the best article in 1998-1999. In the 1960s we observed that in sibships in families with sexlinked recessive retinoschisis the sex ratio (number of males to number of females) was extremely high. At that time we had no sufficiently advanced statistical models in order to give an exhaustive genetical explanation of this finding. Recently we have returned to this problem and developed a ML estimation method for this problem. A crucial problem is that the distribution of the observations in the sample is truncated multinomial. Consequently, the ML estimates can be obtained only by an iterative estimation process. (Fellman et al., 1999, 2002, Huopaniemi et al., 1999)