Chapter

Phenotype and Functional Genomics

Moyra Smith

in Phenotypic Variation

Published on behalf of Oxford University Press

Published in print February 2011 | ISBN: 9780195379631
Published online October 2012 | e-ISBN: 9780199975211 | DOI: http://dx.doi.org/10.1093/med/9780195379631.003.0001
Phenotype and Functional Genomics

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  • Clinical Genetics
  • Clinical Cytogenetics and Molecular Genetics

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The goal of functional genomics is to gain insight into mechanisms through which specific changes in genome transcripts and regulation induce changes in proteins, pathways, organelles, cellular and tissue functions, morphology, and ultimately in phenotype. The flow is bidirectional. Molecular analysis of phenotypes may reveal how known pathways are disrupted; as unusual phenotypes are analyzed, new information emerges revealing molecular pathways, gene interactions, and regulatory mechanisms that were previously unknown. Currently phenotypic analyses are carried out against the backdrop of genome information and they represent a continuum in progress to understand individual differences, including differences between humans and differences between humans and other species. Topics selected for each of the chapters in this book have connections to activities of scientists and clinicians over the past 150 years who sought to understand phenotypic variations, defined initially as inherited and later as genetically determined. Some examples of these connections follow.

Chapter.  3868 words.  Illustrated.

Subjects: Clinical Genetics ; Clinical Cytogenetics and Molecular Genetics

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