This federal Project Grant award, provided by the National Institute of Child Health and Human Development under the Child Health and Human Development Extramural Research program (CFDA 93.865), will support the development and exploration of new technology for massively parallel, rapid, and inexpensive biochemical annotation of DNA variants of unknown significance (VOUS). The University of Washington, the awardee, will employ two novel techniques called VOUSDO and VAMP-SEQ to evaluate the impact of amino acid substitutions on protein folding for a comprehensive list of proteins included in newborn sequencing pilot studies. This $578,935 grant, awarded on August 23, 2024, aims to reduce the false negative problem associated with ignoring VOUS in newborn screening programs that utilize whole genome sequencing. The research will be conducted at the University of Washington from August 2024 through June 2028.
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