Highlights for SEQUENCE Pilot version 5.4.6: ACMG Classification Tool:
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Structured criteria workflow: assign ACMG/AMP criteria step by step and document the rationale for each decision
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Transparent overview: keep track of applied evidence in a clear matrix and see the resulting classification at a glance
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Consistency in routine work: improve reproducibility across users and enable harmonized reporting within the laboratory
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Optional database context: public variant database information can be shown directly in the tool when using the SQLite public SNP databases
For a complete list of changes and update instructions, please contact the JSI support team.
