Human genetics has emerged as one of the most dynamic areas of biology, with a
broadening societal impact. In this review, we discuss recent achievements, ongoing efforts …

Understanding the influence of genetics on human disease is among the primary goals for
biology and medicine. To this end, the direct study of natural human genetic variation has …

Genetic architecture describes the characteristics of genetic variation that are responsible for
heritable phenotypic variability. It depends on the number of genetic variants affecting a trait …

Genome-wide association studies and, more recently, next-generation sequencing studies
have accelerated the investigation of complex human traits by providing a wealth of …

Much of the recent advances in functional genomics owe to developments in next-
generation sequencing technology, which has contributed to the exponential increase of …

Technological and analytical advances have led to an unprecedented catalog of genomic
regions associated with a broad range of clinically relevant phenotypes in humans …

Abstract Systems genetics is an approach to understand the flow of biological information
that underlies complex traits. It uses a range of experimental and statistical methods to …

More than 150 years after Mendel discovered the laws of heredity, the genetic architecture of
phenotypic variation remains elusive. Here, we discuss recent progress in deciphering how …

Given the unprecedented tools that are now available for rapidly comparing genomes, the
identification and study of genetic and genomic changes that are unique to our species have …

Identifying the causes of similarities and differences in genetic disease prevalence among
humans is central to understanding disease etiology. While present-day humans are not …