Katsumata, Yuriko

An individual’s late-onset Alzheimer’s disease (LOAD) risk is ~80% heritable according to twin studies, yet only ~50% of LOAD risk is explained by known single nucleotide variants. Given this key knowledge gap, there must exist undiscovered genetic drivers of LOAD. The overall project objective is to identify novel, LOAD-associated structural variants (SVs) that have been largely understudied. We will comprehensively search the human genome to characterize the genetic architecture of these novel SVs in LOAD by leveraging previously generated large-scale whole-genome (WGS) and exome (WES) sequencing data from the Alzheimer’s Disease Sequencing Project (ADSP).

Students:

Xian Wu, PostDoc, Added on MCC cluster, 07/31/2023 

Khine Zin Aung, PostDoc, Added on MCC cluster, 07/31/2023