A primary goal of human genetics is to identify DNA sequence variants that influence
biomedical traits, particularly those related to the onset and progression of human disease …

Human Molecular Genetics and Genomics Genomic research has evolved from seeking to
understand the fundamentals of the human genetic code to examining the ways in which this …

Abstract Information from the human genome sequence will eventually alter many aspects of
clinical practice. It will increase through our understanding of disease mechanisms, and …

Human genetics is now at a critical juncture. The molecular methods used successfully to
identify the genes underlying rare mendelian syndromes are failing to find the numerous …

The complete human genome sequence will facilitate the identification of all genes that
contribute to disease. We propose that the functional classification of disease genes and …

A principal goal of genetic research is to identify specific genotypes that are associated with
human phenotypes. It will soon be possible to conduct genome-wide genotyping on a …

Strong evidence suggests that rare mutations of severe effect are responsible for a
substantial portion of complex human disease. Evolutionary forces generate vast genetic …

Susceptibility to common human diseases is influenced by both genetic and environmental
factors. The explosive growth of genetic data, and the knowledge that it is generating, are …

After more than a decade of hope and hype, researchers are finally making inroads into
understanding the genetic basis of many common human diseases. The use of genome …

Despite great progress in identifying genetic variants that influence human disease, most
inherited risk remains unexplained. A more complete understanding requires genome-wide …