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Achievement: Arctic Code Vault Contributor

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Achievement: Arctic Code Vault Contributor

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  1. candidate-filtering candidate-filtering Public

    Germline variant triage for epilepsy/NDD gene panels — VEP+Pangolin annotation, MOI-aware filtering, triage-grade ACMG labelling for manual curation (not an automated classifier)

    Perl

  2. sarek-clinical sarek-clinical Public

    Clinical germline WGS variant-calling pipeline (Sarek on Google Cloud Batch) + plain-language guide

    Shell