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Related Experiment Video

Updated: Jun 21, 2026

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

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

Published on: August 20, 2019

Internet resources in medical genetics.

Darrel J Waggoner¹, Roberta A Pagon

¹The University of Chicago, Chicago, Illinois, USA.

Current Protocols in Human Genetics

|July 8, 2009

Summary

This guide reviews essential web resources for genetic testing information. It covers molecular diagnostics, inherited diseases, and newborn screening for clinicians and consumers.

Area of Science:

Genetics
Bioinformatics
Clinical Medicine

Background:

Clinicians require accessible, reliable web resources for genetic testing.
Information on molecular basis of inherited diseases is crucial for patient care.
Consumers and professional societies also need curated genetic information.

Purpose of the Study:

To provide an overview of commonly used web-based information resources.
To support clinicians in applying genetic testing in patient care.
To assist consumers and professional societies in accessing genetic information.

Main Methods:

Literature review of web-based genetic information resources.
Categorization of resources based on user needs (clinicians, consumers, societies).

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Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease

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Last Updated: Jun 21, 2026

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

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Published on: August 20, 2019

Navigating MARRVEL, a Web-Based Tool that Integrates Human Genomics and Model Organism Genetics Information

Navigating MARRVEL, a Web-Based Tool that Integrates Human Genomics and Model Organism Genetics Information

Published on: August 15, 2019

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease

Published on: April 4, 2018

Evaluation of resource utility for molecular testing, metabolic diseases, and newborn screening.

Main Results:

Identified key web resources for genetic testing information.
Highlighted resources for understanding inherited diseases and metabolic disorders.
Included resources for newborn screening and genetic advocacy.

Conclusions:

Web-based resources are vital for disseminating genetic information.
Effective use of these resources can improve patient care and genetic literacy.
A curated list aids professionals and the public in navigating genetic information.