Short-read genome sequencing at population scale: diagnostic insights from 2317 patients
2026-03-31
Søren L. Faergeman, Lotte Andreasen, Naja Becher, Mette Christiansen, Claus H. Gravholt, Uffe B. Jensen, Jens Magnus Bernth Jensen, Ole H. Larsen, Sara Markholt, Katrine S. Sandgaard, Søren Vang, Dorte L. Lildballe
European Journal of Human Genetics, Published online: 31 March 2026; doi:10.1038/s41431-026-02089-8 Short-read genome sequencing at population scale: diagnostic insights from 2317 patients