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
Educational Materials
Resources for Genetics Professionals
Limitations of Clinical Exome Sequencing: Genetic Disorders Not Reliably Diagnosed
Genetic Disorders Caused by Nucleotide Repeat Expansions and Contractions (revised 10-20-22)
Genes with Highly Homologous Gene Family Members or a Pseudogene(s) (3-8-18)
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 12-7-23)
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
- Acadian (5-26-22)
- Afrikaner (8-11-22)
- Amish (revised 12-7-23)
- Apache (revised 1-12-23)
- Ashkenazi Jewish (revised 10-20-22)
- Bedouin (8-18-22)
- Bukharan Jewish (9-29-22)
- Choctaw (revised 6-1-23)
- Costa Rican (6-30-22)
- Cree and/or Ojibway (revised 6-1-23)
- Druze (revised 9-28-23)
- Faroe Islander (revised 1-12-23)
- Finnish (revised 5-4-23)
- Georgian Jewish (9-29-22)
- Gitxsan (8-11-22)
- Hutterite (revised 12-1-22)
- Inuit (revised 8-24-23)
- La Réunion Island (revised 10-19-23)
- Lumbee (revised 1-12-23)
- Māori (1-12-23)
- Mennonite (6-1-23)
- Métis (6-16-22)
- Navajo (revised 11-3-22)
- Newfoundland and Labrador (revised 8-17-23)
- Pueblo (9-29-22)
- Romani (8-11-22)
- Sephardic Jewish (1-12-23)
- Yup'ik (revised 6-30-22)
- Zuni (8-11-22)
Direct-to-Consumer Testing (6-13-19)
The Undiagnosed Diseases Network (3-15-18)
Publication Details
Author Information and Affiliations
Publication History
Initial Posting: February 12, 2018; Last Revision: December 7, 2023.
Copyright
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 (© 1993-2024 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.
Publisher
University of Washington, Seattle, Seattle (WA)
NLM Citation
Wallace SE. GeneReviews Resource Materials. 2018 Feb 12 [Updated 2023 Dec 7]. In: Adam MP, Feldman J, Mirzaa GM, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2024.