Tim Poterba

TL;DR: It is demonstrated that this newly discovered mode of AAV binding and transduction can occur independently of other known AAV receptors, and inform ongoing efforts to develop next-generation AAV vehicles for human CNS gene therapy.

TL;DR: In this article, the authors used deep-coverage whole genome sequencing in 8392 individuals of European and African ancestry to discover and interpret both single-nucleotide variants and copy number (CN) variation associated with Lp(a).

TL;DR: A genome-wide association study was conducted, and rapidly identified and verified LY6A as an essential receptor for the AAV-PHP.B vectors in brain endothelial cells, and this newly discovered mode of AAV binding and transduction is independent of other known AAV receptors and can be imported into different cell types to confer enhanced transduction by the A.V.B vector.

TL;DR: In this paper, a deep-coverage whole-genome sequencing in 8,392 individuals of European and African American ancestries was performed to comprehensively delineate the inherited basis for plasma Lp(a), where apolipoprotein(a) was found to be 85% heritable among African Americans and 75% among Europeans, with notable inter-ethnic heterogeneity.

TL;DR: In this paper, the largest systematic evaluation of dominance effects on phenotypic variance in the UK Biobank was carried out, where the authors curated and tested over 1,000 phenotypes for dominance effects through GWAS scans, identifying 175 loci at genome-wide significance correcting for multiple testing.