Rare Disease Genomics & Variant Prioritization | Trio WES/WGS, ACMG & Reanalysis

End-to-end rare disease genomics: phenotyping (HPO), pedigrees & inheritance models, trio WES/WGS, QC & filtering, CNV/SV/splice predictions, gene–disease validity, ACMG/AMP interpretation, prioritization & reanalysis.

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Rare Disease Genomics & Variant Prioritization — Hands-on

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