MDI Special Article

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Quality control in the discovery, reporting, and recording of genomic variation

  1. Richard G.H. Cotton*,
  2. Ourania Horaitis

Article first published online: 27 DEC 1999

DOI: 10.1002/(SICI)1098-1004(200001)15:1<16::AID-HUMU6>3.0.CO;2-S

Issue

Human Mutation

Human Mutation

Special Issue: The HUGO Mutation Database Initiative: Issues, Databases, and Perspectives for the New Millennium

Volume 15, Issue 1, pages 16–21, January 2000

Additional Information

How to Cite

Cotton, R. G. and Horaitis, O. (2000), Quality control in the discovery, reporting, and recording of genomic variation. Human Mutation, 15: 16–21. doi: 10.1002/(SICI)1098-1004(200001)15:1<16::AID-HUMU6>3.0.CO;2-S

Author Information

  1. Mutation Research Centre, Fitzroy, Melbourne, Australia

*Mutation Research Centre, 7th Floor, Daly Wing, 41 Victoria Parade, Fitzroy, Melbourne, 3065 Australia

Publication History

  1. Issue published online: 27 DEC 1999
  2. Article first published online: 27 DEC 1999
  3. Manuscript Accepted: 8 OCT 1999
  4. Manuscript Received: 16 AUG 1999

Funded by

  • The March of Dimes Birth Defects Foundation (USA). Grant Number: 4-FY98-764
  • The National Health and Medical Research Council (Australia)

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Keywords:

  • MDI;
  • mutation database;
  • mutation validation;
  • error detection;
  • variation;
  • data analysis

Abstract

The usefulness of any database is dependent on the quality of its content. This is so for mutation databases and has been a continuing concern for those interested in such databases. This article discusses the critical points that determine the quality of the data, such as PCR errors, incomplete scanning, examination of the effect of the variation, and reporting and deposition of the mutations in a database. To illustrate the importance of quality control in mutation curation, nine articles reporting 34 novel phenylketonuria mutations were surveyed for the criteria believed to be important in describing mutations. Many articles were deficient in entries in several criteria, but there was still a high degree of certainty that the described mutations caused disease. Finally, strategies to eliminate errors and to enhance or indicate quality are discussed, including expression, the review process, checking deductions, and typing and encouraging compliance. Models for the future are also discussed. Hum Mutat 15:16–21, 2000. © 2000 Wiley-Liss, Inc.

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