Internet Resources in Medical Genetics

Darrel J. Waggoner1

1 The University of Chicago, Chicago, Illinois
Publication Name:  Current Protocols in Human Genetics
Unit Number:  Unit 9.12
DOI:  10.1002/0471142905.hg0912s80
Online Posting Date:  January, 2014
GO TO THE FULL TEXT: PDF or HTML at Wiley Online Library

Abstract

This unit presents an overview of the most commonly used Web‐based information resources for clinicians seeking to apply molecular or array‐based genetic testing to patient care, learn more about newborn screening, or understand the molecular basis of inherited diseases. It is also for consumers seeking advocacy or scientific/management information, and for genetics professional societies. Curr. Protoc. Hum. Genet. 80:9.12.1‐9.12.8. © 2014 by John Wiley & Sons, Inc.

Keywords: medical genetics; genetic testing; genetic counseling

     
 
GO TO THE FULL PROTOCOL:
PDF or HTML at Wiley Online Library

Table of Contents

  • Introduction
  • Genetic Testing Databases
  • Microarray and Next‐Generation Sequencing Resources
  • Newborn Screening Resources
  • Genetic Disease Resources, Advocacy, and Support Groups
  • Genetics Professional Societies
  • Literature Cited
  • Figures
  • Tables
     
 
GO TO THE FULL PROTOCOL:
PDF or HTML at Wiley Online Library

Materials

GO TO THE FULL PROTOCOL:
PDF or HTML at Wiley Online Library

Figures

Videos

Literature Cited

Literature Cited
  Antonarakis, S.E. and McKusick, V.A. 2000. OMIM passes the 1,000 disease‐gene mark. Nat. Genet.25:11.
  Amberger, J., Bocchini, C., and Hamosh, A. 2011. A new face and new challenges for Online Mendelian Inheritance in Man (OMIM®). Hum. Mutat.32:564‐567.
  McKusick, V.A. (ed.) 1966. Mendelian Inheritance in Man, A Catalog of Autosomal Dominant, Autosomal Recessive, and X‐linked Phenotypes, 1st ed. Johns Hopkins University Press, Baltimore.
GO TO THE FULL PROTOCOL:
PDF or HTML at Wiley Online Library