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In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila

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Internet resources in Medical Genetics.

Roberta A Pagon¹

¹University of Washington, Seattle, Washington, USA.

Current Protocols in Human Genetics

|April 23, 2008

Summary

This overview highlights key web-based genetic information resources for clinicians, consumers, and professional societies. It guides users to valuable tools for understanding inherited diseases and molecular genetic testing.

Area of Science:

Genetics and Bioinformatics
Medical Informatics
Consumer Health Informatics

Background:

Clinicians require accessible resources for molecular genetic testing and understanding inherited diseases.
Consumers need reliable information for advocacy, scientific understanding, and disease management.
Genetics professional societies serve as crucial hubs for disseminating knowledge and standards.

Purpose of the Study:

To provide a comprehensive overview of commonly used web-based information resources in genetics.
To categorize these resources based on their primary users: clinicians, consumers, and professional societies.
To facilitate efficient access to relevant genetic information for diverse audiences.

Main Methods:

Literature review and synthesis of prominent genetics-related websites.

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Categorization of resources based on user groups and information type.

Description of key features and target audience for each resource.

Main Results:

Identified GeneTests and OMIM for clinicians.
Highlighted Genetic Alliance, Genetics Home Reference, and others for consumers.
Noted resources relevant to genetics professional societies.

Conclusions:

Web-based resources are vital for disseminating genetic information to clinicians and consumers.
A curated list of these resources aids in navigating the complex landscape of genetic information.
Effective use of these tools supports informed patient care and consumer health literacy.