For many years, linkage analysis was the primary tool used for the genetic mapping of
Mendelian and complex traits with familial aggregation. Linkage analysis was largely …

Medical genetics was revolutionized during the 1980s by the application of genetic mapping
to locate the genes responsible for simple Mendelian diseases. Most diseases and traits …

The protein cytotoxic T lymphocyte antigen-4 (CTLA-4) is an essential negative regulator of
immune responses, and its loss causes fatal autoimmunity in mice. We studied a large family …

Genotype imputation is a key step in the analysis of genome-wide association studies.
Upcoming very large reference panels, such as those from The 1000 Genomes Project and …

Hypogonadotropic hypogonadism is defined as a deficiency of the pituitary secretion of
follicle-stimulating hormone and luteinizing hormone, which results in the impairment of …

The contribution of BRCA1 and BRCA2 to inherited breast cancer was assessed by linkage
and mutation analysis in 237 families, each with at least four cases of breast cancer …

Efforts to find disease genes using high-density single-nucleotide polymorphism (SNP)
maps will produce data sets that exceed the limitations of current computational tools. Here …

A small proportion of breast cancer, in particular those cases arising at a young age, is due
to the inheritance of dominant susceptibility genes conferring a high risk of the disease. A …

An exceptional muscle development commonly referred to as 'double-muscled'(Fig. 1) has
been seen in several cattle breeds and has attracted considerable attention from beef …

Background Chronic mucocutaneous candidiasis may be manifested as a primary
immunodeficiency characterized by persistent or recurrent infections of the mucosa or the …