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The New York Genome Center (NYGC) is an independent, nonprofit academic research institution that serves as a multi-institutional hub for collaborative genomic research. Leveraging our strengths in technology development, computational biology, and whole-genome sequencing, our mission is to advance genomic science, and its application to novel biomedical discoveries. NYGC’s areas of focus include the development of computational and experimental genomic methods and disease-focused research to advance the understanding of the genetic basis of cancer, neurodegenerative disease, and neuropsychiatric disease.

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medRxiv. 2023 Sept. 12.

Systematic identification of disease-causing promoter and untranslated region variants in 8,040 undiagnosed individuals with rare disease.

Alexandra C Martin Geary, Alexander JM Blakes, Ruebena Dawes, Scott D Findlay, View ORCID ProfileJenny C Lord, Susan Walker, Jonathan Talbot-Martin, Nechama Wieder, Elston N D’Souza, Maria Fernandes, Sarah Hilton, Nayana Lahiri, Christopher Campbell, Sarah Jenkinson, Christian GEL De Goede, Emily R Anderson, Christopher B Burge, Stephan J Sanders, Jamie Ellingford, Diana Baralle, Siddharth Banka, Nicola Whiffin

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