Networks of gene regulation control many aspects of cellular biology, ranging from development and differentiation to the cell cycle and apoptosis. However, the precise control of genetic regulation is poorly understo...
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Networks of gene regulation control many aspects of cellular biology, ranging from development and differentiation to the cell cycle and apoptosis. However, the precise control of genetic regulation is poorly understood for whole cells and large systems. Technical achievements in the genome-wide measurement of DNA, mRNA and proteins - and their assorted interactions - have enabled systematic approaches to regulation in molecular biology, which promise to shed new light on the complex architecture of gene regulatory networks. Detailed knowledge of such systems is crucial for our understanding of molecular phenotypes;similarly, our ability to treat and cure many diseases will depend on our understanding of molecular disease at its regulatory and mechanistic roots.
Infection by high-risk human papillomaviruses (HPVs) is associated with the development of cervical cancers. Classification of risk types is important to understand the mechanisms in infection and to develop novel ins...
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The experimental and computational techniques for capturing information about protein structures and genetic variation within the human genome have advanced dramatically in the past 20 years, generating extensive new ...
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The experimental and computational techniques for capturing information about protein structures and genetic variation within the human genome have advanced dramatically in the past 20 years, generating extensive new data resources. In this review, we discuss these advances, along with new approaches for determining the impact a genetic variant has on protein function. We focus on the potential of new methods that integrate human genetic variation into protein structures to discover relationships to disease, including the discovery of mutational hotspots in cancer-related proteins, the localization of protein-altering variants within protein regions for common complex diseases, and the assessment of variants of unknown significance for Mendelian traits. We expect that approaches that integratethese data sources will play increasingly important roles in disease gene discovery and variant interpretation.
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