An openly available online tool for implementing the ACMG/AMP standards and guidelines for the interpretation of sequence variants

Genetics in Medicine – We have been using the standards and guidelines to classify variants identified using a next-generation sequencing gene panel for individuals with suspected forms of monogenic diabetes, such as maturity-onset diabetes of the young, as part of the Personalized Diabetes Medicine Program, a member project in the National Human Genome Research Institute–funded IGNITE (Implementing Genomics in Practice) Network. This program uses patient characteristics and family history to identify individuals likely to have a monogenic etiology for their diabetes mellitus, which is challenging owing to the similarity of clinical presentation between monogenic diabetes and more common forms of diabetes.

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