Assessment of the variant prioritisation strategy for genomic newborn screening in the Generation Study
Joanna Kaplanis, Dasha Deen, Prasanth Sivakumar, Mafalda de Almeida Gomes, Arina Puzriakova, Ivone Un San Leong, K. Savage, Gabriel Aldam, James Skelton, Paul Quinn, Andrew Parrish, Emma L. Baple, Meekai To, Katrina Stone, David P Bick, , Dalia Kasperavičiūtė
The paper assesses an automated variant prioritisation strategy for genomic newborn screening in the Generation Study, finding that 3-5% of samples require manual review and <1% need confirmatory testing.
Genetics in Medicine · Jul 17, 2025Peer-reviewedGenetic & Genomic Medicine