Jonathan M. Bloom

The paper identifies LY6A as a novel receptor for AAV-PHP.B vectors, enabling efficient gene delivery across the blood-brain barrier in mice.

The paper analyzes whole genome sequences from 16,324 individuals to identify genetic variants associated with blood lipid levels and develops a polygenic score for LDL-C.

The paper introduces a new synthetic-diploid benchmark for variant calling accuracy, derived from de novo PacBio assemblies of homozygous human cell lines to reduce bias in error rate estimation.

The paper uses whole genome sequencing to identify genetic variants associated with plasma lipoprotein(a) levels and finds high heritability and inter-ethnic differences in Lp(a) risk.