Curating The Human Genome – What It Will Mean and How We Can Make It Happen

The Human Genome Project, begun in 1990 and completed in 2003, was a major breakthrough for clinical genetics – the sequence of the human genome was no longer a mystery.

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Uncovering the Genomic Variant Landscape for Rare Disease BPAN

Beta-propeller Protein-Associated Neurodegeneration, or BPAN, is a rare genetic condition caused by mutations in the WDR45 gene. It is characterized by seizures, complex epileptic encephalopathies, developmental delays, and neurodegenerative symptoms similar to those found in Parkinson’s disease and currently has no cure.

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