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interpretation of sequence variants

Automatic criteria combining tool according to ACMG Standards and guidelines for the interpretation of sequence variants.

How to use

Offline

Download index.html and open it with your favorite browser

Online

Open the following URL with your favorite browser.

https://www.koreanhla.com/acmg/standards-and-guidelines/interpretation-of-sequence-variants/

Version history

  • 2017.6.30 1.0 initial version

License

MIT license

Reference

This page is a partial implementation of an article of

Richards S, Aziz N, Bale S, et al. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genetics in medicine. 2015 Mar 5;17(5):405-23. PDF

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Automatic criteria combining tool according to ACMG Standards and guidelines for the interpretation of sequence variants

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