Rebecca Reimers

The paper presents a joint genomic analysis of UDN patients using whole genome sequencing and new statistical methods to prioritize disease genes, revealing new disease associations and releasing a software tool for cohort analysis.

This paper proposes a fetal actionable findings list for genomic sequencing in pregnancy to identify clinically relevant incidental variants.

The paper uses primate genetic data to predict human variant pathogenicity with a deep learning classifier trained on 4.3 million common missense variants.