During the past two decades, linkage analysis has been phenomenally successful in
localizing Mendelian disease genes. Linkage disequilibrium (LD) analysis, which effectively …

New genetic data has enabled scientists to re-examine the relationship between human
genetic variation and'race'. We review the results of genetic analyses that show that human …

As the human gene map becomes saturated with polymorphic markers (Murray et al. 1994),
the rapid assignment of a disease gene to an approximate chromosomal location through …

Up to date and extensively revised to reflect recent advances in the genetics of common
diseases, as well as current progress in gene therapy, Medical Genetics, 6th Edition …

The goal of the International HapMap Project is to determine the common patterns of DNA
sequence variation in the human genome and to make this information freely available in …

Here we report the Simons Genome Diversity Project data set: high quality genomes from
300 individuals from 142 diverse populations. These genomes include at least 5.8 million …

We analyzed the whole-genome sequences of a family of four, consisting of two siblings and
their parents. Family-based sequencing allowed us to delineate recombination sites …

Tibetans have lived at very high altitudes for thousands of years, and they have a distinctive
suite of physiological traits that enable them to tolerate environmental hypoxia. These …

We report a comparison of worldwide genetic variation among 255 individuals by using
autosomal, mitochondrial, and Y-chromosome polymorphisms. Variation is assessed by use …

Ulnar-mammary syndrome is a rare pleiotropic disorder affecting limb, apocrine gland, tooth
and genital development. We demonstrate that mutations in human T8X3, a member of the T …