The Broad Institute's All of Us (AoU) Genome Center and All of Us Data and Research Center have led multiple aspects of variant discovery and data releases for this national biobank initiative. In June 2024, the laboratory of institute member and All of Us Co-I Mike Talkowski, including Emma Pierce-Hoffman, Mark Walker, Harrison Brand, Chris Whelan, [...]
The structural variations (SVs) in the non-coding region of 5q14.3 near a gene called MEF2C — a transcription factor, has been linked to neurodevelopmental disorders (NDDs). The paper, published in the American Journal of Human Genetics, is the first to describe the long-range effects of coding and non-coding MEF2C variants in human iPSCs derived neuronal [...]
In this study, we conducted in-depth analyses to evaluate the power of different sequencing technologies, including long-read and short-read whole genome sequencing (WGS), in discovering genomic structural variation (SV). Our study revealed that albeit the over two-fold increase in the power of SV discovery by long-read sequences when compared against short reads, vast majority of [...]
