A genome-wide approach to identifying novel-imprinted genes
Published in Annual Review of Genomics and Human Genetics
The futility of genomic counseling: essential role of electronic health records
Published in Genome Medicine
Technological advances over the past several years have dramatically reduced the cost of whole-genome sequencing. At the same time, understanding of the functional significance of genetic variation has advanced considerably. The routine generation of whole-genome sequence data for individual patients will soon be sufficiently cost-effective for wid...
The genetic landscapes of autism spectrum disorders.
Published in Annual Review of Genomics and Human Genetics
The autism spectrum disorders (ASD) are characterized by impairments in social interaction and stereotyped behaviors. For the majority of individuals with ASD, the causes of the disorder remain unknown; however, in up to 25% of cases, a genetic cause can be identified. Chromosomal rearrangements as well as rare and de novo copy-number variants are ...
The genetic theory of infectious diseases: a brief history and selected illustrations.
Published in Annual Review of Genomics and Human Genetics
Until the mid-nineteenth century, life expectancy at birth averaged 20 years worldwide, owing mostly to childhood fevers. The germ theory of diseases then gradually overcame the belief that diseases were intrinsic. However, around the turn of the twentieth century, asymptomatic infection was discovered to be much more common than clinical disease. ...
Sickle Cell Anemia and Its Phenotypes
Published in Annual Review of Genomics and Human Genetics
In the 100 years since sickle cell anemia (SCA) was first described in the medical literature, studies of its molecular and pathophysiological basis have been at the vanguard of scientific discovery. By contrast, the translation of such knowledge into treatments that improve the lives of those affected has been much too slow. Recent years, however,...
Inferring Causal Relationships Between Risk Factors and Outcomes from Genome-Wide Association Study Data
Published in Annual Review of Genomics and Human Genetics
An observational correlation between a suspected risk factor and an outcome does not necessarily imply that interventions on levels of the risk factor will have a causal impact on the outcome (correlation is not causation). If genetic variants associated with the risk factor are also associated with the outcome, then this increases the plausibility...
From a Single Child to Uniform Newborn Screening: My Lucky Life in Pediatric Medical Genetics
Published in Annual Review of Genomics and Human Genetics
Mike, a memorable young patient with untreated phenylketonuria, as well as others affected by genetic disorders that could be treated if diagnosed in infancy, launched my six-decade career. This autobiographical article reflects on my childhood, early research, and professional experiences in pediatric genetics. My laboratory research focused on in...
The Genomic Commons
Published in Annual Review of Genomics and Human Genetics
Over its 30 or so years of existence, the genomic commons—the worldwide collection of publicly accessible repositories of human and nonhuman genomic data—has enjoyed remarkable, perhaps unprecedented, success. Thanks to the rapid public data release policies initiated by the Human Genome Project, free access to a vast array of scientific data is no...
Rare-Variant Studies to Complement Genome-Wide Association Studies
Published in Annual Review of Genomics and Human Genetics
Genome-wide association studies (GWASs) have revolutionized human disease genetics by discovering tens of thousands of associations between common variants and complex diseases. In parallel, huge technological advances in DNA sequencing have made it possible to measure and analyze rare variation in populations. This review considers these two stori...
The Genetics and Genomics of Asthma
Published in Annual Review of Genomics and Human Genetics
Asthma is a common, clinically heterogeneous disease with strong evidence of heritability. Progress in defining the genetic underpinnings of asthma, however, has been slow and hampered by issues of inconsistency. Recent advances in the tools available for analysis—assaying transcription, sequence variation, and epigenetic marks on a genome-wide sca...
