Inactive

Structural variants are one of the largest sources of variation in the human genome and have been linked to neurodegenerative disorders like Alzheimer’s disease (AD), yet the robust detection of these... Structural variants are one of the largest sources of variation in the human genome and have been linked to neurodegenerative disorders like Alzheimer’s disease (AD), yet the robust detection of these events in human diseases remains challenging. The government will require a Contractor to identify large structural variants driving the cause and/or risk for AD and related dementias in long-read sequencing data generated by National Institutes of Health (NIH) Center for Alzheimer's and Related Dementias (CARD) from patients with AD, frontotemporal dementia (FTD), Lewy body dementia (LBD), and healthy subjects. The Contractor shall have expertise in the processing and analysis of long-read sequencing data to both detect and phase structural variants in this long-read sequencing data. The government will then use this service provided by the Contractor to determine possible structural variants in AD, FTD, and LBD.