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Adam MP, Mirzaa GM, Pagon RA, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2023.

Cover of GeneReviews®

GeneReviews® [Internet].

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GeneReviews Resource Materials

, MD.

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Initial Posting: ; Last Revision: January 12, 2023.

Estimated reading time: 1 minute

Note: These resource materials, provided by the editors of GeneReviews, include the following:

  • Educational Materials, intended for individuals of varying experience with clinical genetics and designed to clarify genetics concepts presented in GeneReviews chapters – as the GeneReviews glossary clarifies our use of genetic counseling and testing terms

GeneReviews Resource Materials will be updated as needed, and new materials added as they are completed. Reader comments and suggestions are welcome. — The Editors

Resources for Genetics Professionals

Epigenetic Signature Analysis: An Introduction (revised 6-30-22)

An introduction to epigenetic signature analysis and comparison of gene-specific genome-wide methylation analysis and epigenetic modifications to specific regions of the genome

Mosaicism (10-27-22)

The occurrence within a single individual or tissue of two or more cell lines with a different genetic or chromosomal composition, involving somatic cells, germline cells, and/or tumor cells. Implications for molecular genetic testing and genetic counseling are discussed.

Founder Variants by Population: Genes and Disorders (revised 1-12-23)

Pathogenic variants observed at high frequency in specific populations due to the presence of the variant in a single ancestor or small number of ancestors

Copyright © 1993-2023, University of Washington, Seattle. GeneReviews is a registered trademark of the University of Washington, Seattle. All rights reserved.

GeneReviews® chapters are owned by the University of Washington. Permission is hereby granted to reproduce, distribute, and translate copies of content materials for noncommercial research purposes only, provided that (i) credit for source (http://www.genereviews.org/) and copyright (© 1993-2023 University of Washington) are included with each copy; (ii) a link to the original material is provided whenever the material is published elsewhere on the Web; and (iii) reproducers, distributors, and/or translators comply with the GeneReviews® Copyright Notice and Usage Disclaimer. No further modifications are allowed. For clarity, excerpts of GeneReviews chapters for use in lab reports and clinic notes are a permitted use.

For more information, see the GeneReviews® Copyright Notice and Usage Disclaimer.

For questions regarding permissions or whether a specified use is allowed, contact: ude.wu@tssamda.

Bookshelf ID: NBK481802


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