2023 - Whole Genome Amplification: Studying Tissue Mosaicism and Evolution with Primary Template-Directed Amplification

Over the past decade, whole genome sequencing of populations has afforded unique insights into genetic variation at the tissue level of individuals, illuminating the underpinnings of both traits and diseases. However, it is now understood that all cells within tissues acquire tens to hundreds of somatic mutations during development and continue to accumulate mutations throughout a lifespan due to copying errors during ongoing cell divisions as well as exposures to environmental mutagens. In this webinar, the featured speaker will present primary template-directed amplification (PTA), a novel whole genome amplification method that enables the sequencing of over 95 percent of a single cell’s genome with unparalleled uniformity, accuracy and precision.
Leveraging PTA, the speaker will illustrate the capacity to identify potential pathological mutations in preimplantation embryos, developmental anomalies like cortical dysplasia, non-malignant diseases that can develop later in life such as vascular malformations and rare drug-resistant leukemia cells. Furthermore, they showcase how PTA can generate high-quality assemblies from individual unculturable microbes.
Lastly, the webinar will describe methods for integrating PTA with whole transcriptome sequencing from the same cells, thus enabling the placement of these somatic mutations within the context of specific cell types and states. The primary template-directed amplification represents a novel whole genome amplification method that is enhancing the capacity to study intra-tissue genetic diversity and evolution, including the contributions of those somatic mutations to human diseases.
Join this webinar to learn about a groundbreaking method of whole genome amplification. Learn how primary template-directed amplification enables high-precision sequencing of individual cell genomes, uncovering genetic variation, somatic mutations and their impact on disease development.