Tutorials

Interpreting Genomes for Rare Disease: Variant and Gene Interpretation

 Presented by

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Access video recordings of previous 2019 course

Intro to Next Generation Sequencing (Speaker: Daniel MacArthur)

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Gene Curation (Speaker: Marina DiStefano)

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Data Sharing (Speaker: Heidi Rehm)

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Future Directions Panel

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Annotation Data & Uses (Speaker: Anne O’Donnell- Luria)

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Variant Interpretation (Speaker: Steven Harrison)

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Patient Perspective (Speaker: Sonia Vallabh)

sonia video