The Dynamic Genome

National Heart, Lung, And Blood Institute

Investigators

Abstract

After a successful first year of progress strides continue to be made in year two of our Dynamic Genome grant. There are now 2897 combined samples with completed Whole Genome Sequencing (WGS) data. The WGS batches breakdown like this: Batch-1, from year 1 was 944 Framingham Heart Study Samples (FHS). Batch-2 contains 1237 FHS samples. Batch-3 contains 716 Jackson Heart Study samples (JHS). Batches 2 and 3 are from year 2. In terms of processing, the Batch-1 and Batch-2 samples have been processed through the IRC/TOPMED alignment pipeline while the remaining Batch-3 716 JHS samples are ‘in-process’ and anticipate completion in September. Year-2 also established the initial ‘calling’ pipelines. Progress for Clonal Hematopoiesis of Indeterminate Potential (CHIP) calling (at Vanderbilt University) as well as mitochondrial copy number (CN) and mitochondrial heteroplasmy (MH) calling at Boston University Med Center (BUMC). The Batch-1 data been run by each university and these initial data are under review with the research teams and look promising. Batch-2 will begin as once the calling has been thoroughly reviewed and quality control verified. DNA extraction is completing at both the BUMC (FHS samples) and University of Vermont (JHS samples core lab) labs. There are an additional ~700 samples from FHS ready for the sequencing core as well as ~200 additional samples from JHS. These will be sequenced in year 3. The research team anticipates having some initial results and analysis interpretation in early 2026 and hopes to have multiple posters/presentations to share at the TOPMED 2026 meeting.