Individualised human phenotype ontology gene panels improve clinical whole exome and genome sequencing analytical efficacy in a cohort of developmental and epileptic encephalopathies.
Olivia J HenryTommy StödbergSofia BåtelsonChiara RasiHenrik StranneheimAnna WedellPublished in: Molecular genetics & genomic medicine (2023)
We have demonstrated a viable approach for incorporating standardised phenotype information into clinical genomic analyses, which may enable more efficient analysis.