Recent successful discoveries of potentially causal single nucleotide polymorphisms (SNPs)
for complex diseases hold great promise, and commercialization of genomics in …

Prior to performance of linkage analysis, elimination of all Mendelian inconsistencies in the
pedigree data is essential. Often, identification of erroneous genotypes by visual inspection …

Advanced age-related macular degeneration (AMD) is the leading cause of blindness in the
elderly, with limited therapeutic options. Here we report on a study of >12 million variants, …

Improved genotyping technology has made it feasible to use a genetic approach to map
genes involved in the etiology of common human diseases. We discuss here recent …

Age is the dominant risk factor for most chronic human diseases, but the mechanisms
through which ageing confers this risk are largely unknown 1 . The age-related acquisition of …

Ataxia-telangiectasia (AT) is a human autosomal recessive disorder of childhood 1,2
characterized by: (1) progressive cerebellar ataxia with degeneration of Purkinje cells; (2) …

We executed a genome-wide association scan for age-related macular degeneration (AMD)
in 2,157 cases and 1,150 controls. Our results validate AMD susceptibility loci near CFH (P …

On the basis of genomewide linkage studies of families affected with age-related maculopathy
(ARM), we previously identified a significant linkage peak on 10q26, which has been …

As genetic marker maps have improved, multipoint linkage analysis has become a crucial
part of all disease mapping studies. Paradoxically, multipoint lod scores become increasingly …

Translation of results from genetic findings to inform medical practice is a highly anticipated
goal of human genetics. The aim of this paper is to review and discuss the role of genetics in …