IDENTIFY Study Participants – 5-Base Sample Preparation and Whole Genome Multiomic Profiling

The Prenatal Genomics and Therapy Section (PGTS), Center for Precision Health Research (CPHR), National Human Genome Research Institute (NHGRI), requires 5-base whole genome sequencing services for stored plasma-derived cell-free DNA samples collected under the IDENTIFY study. These samples were obtained from women who received prenatal cell-free DNA sequencing results suggestive of maternal malignancy. 5Base sample prep and whole genome multiomic profiling at 30x is required to generate high-resolution genomic and epigenomic data suitable for tissue-of-origin analyses. 

The objective of this acquisition is to obtain high-quality, comprehensive 5-base sequencing data that will support the development and refinement of computational models to determine the tissue source of incidentally detected maternal cancers. The resulting data will be incorporated into ongoing bioinformatic and translational research efforts within PGTS to improve interpretation of prenatal cell-free DNA sequencing results, enhance early cancer detection strategies in pregnancy, and advance understanding of circulating cell-free DNA biology in the context of malignancy.