Genome sequencing diagnosed more developmental disorders in a Belgian trial
Genome sequencing diagnosed 39.8% of 284 patients with unexplained developmental disorders, compared with 30% of 283 patients receiving standard care, in a 2026 nationwide trial. All Belgian human genetics centers took part. Standard care combined exome sequencing with chromosomal microarray analysis or shallow genome sequencing. The higher yield mainly came from detecting more single nucleotide variants and indels. After correction for sex distribution and analytical differences, the gap fell to 7.3%.
Patients with unexplained developmental disorders may receive more genetic diagnoses through genome sequencing than through standard care.
Written by the Genomes desk from the primary source cited and linked above and checked against it. Research use only; not medical advice. Corrections: [email protected].