Integration of global resources for human genetic variation and disease

A global reference for human genetic variation

Human Genetic Variation and Parkinson’s Disease

Parkinson's disease (PD) is a chronic neurodegenerative disorder with multifactorial etiology. In the past decade, the genetic causes of monogenic forms of familial PD have been defined. However, the etiology and pathogenesis of the majority of sporadic PD cases that occur in outbred populations have yet to be clarified. The recent development of resources such as the International HapMap Proje...

Global and disease-associated genetic variation in the human Fanconi anemia gene family.

Fanconi anemia (FA) is a human recessive genetic disease resulting from inactivating mutations in any of 16 FANC (Fanconi) genes. Individuals with FA are at high risk of developmental abnormalities, early bone marrow failure and leukemia. These are followed in the second and subsequent decades by a very high risk of carcinomas of the head and neck and anogenital region, and a small continuing r...

Integration formulas for the conditional transform involving the first variation

In this paper, we show that the conditional transform with respect to the Gaussian process involving the first variation can be expressed in terms of the conditional transform without the first variation. We then use this result to obtain various integration formulas involving the conditional $diamond$-product and the first variation.

Human copy number variation and complex genetic disease.

Copy number variants (CNVs) play an important role in human disease and population diversity. Advancements in technology have allowed for the analysis of CNVs in thousands of individuals with disease in addition to thousands of controls. These studies have identified rare CNVs associated with neuropsychiatric diseases such as autism, schizophrenia, and intellectual disability. In addition, copy...