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Navigating MARRVEL, a Web-Based Tool that Integrates Human Genomics and Model Organism Genetics Information
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DECIPHER: database for the interpretation of phenotype-linked plausibly pathogenic sequence and copy-number variation

Eugene Bragin1, Eleni A Chatzimichali, Caroline F Wright

  • 1Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridge CB10 1SD, UK and Cambridge University Department of Medical Genetics, Addenbrooke's Hospital, Cambridge CB2 2QQ, UK.

Nucleic Acids Research
|October 24, 2013
PubMed
Summary

The DECIPHER database now supports analysis of sequence variants like single nucleotide variants (SNVs) and insertions/deletions (InDels), alongside copy-number variants. This expansion enhances the identification and interpretation of genetic variations in rare developmental disorders.

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