Short-read genome sequencing at population scale: diagnostic insights from 2317 patients

N/A (multi-phenotype WGS cohort)

First-tier short-read WGS (Illumina) in 2,317 patients from 2021 to 2024 (Central Denmark): stratification by clinical specialty and phenotype, comparison with published WES and LRS data, real-world diagnostic yield

The Danish National Genome Center presents results of implementing short-read WGS as a first-tier test for genetic disorders in 2,317 patients from 2021 to 2024. The study provides real-world diagnostic yield data stratified by specialty (NDD, heart disease, ophthalmology, renal diseases, etc.) and phenotype. These data constitute a European reference benchmark directly comparable to the French context (AURAGEN, SEQOIA), and allow positioning WGS vs WES vs LRS performance in each subgroup.

Synthesis written by Geno'X. For the full original abstract, please refer to the source publication.

One of the largest first-tier clinical WGS series published in Europe to date. Phenotype and specialty stratification is methodologically ideal for HAS dossiers on clinical value demonstration of WGS in France. Essential reference for national medical genomics programs.

EJHG +2; largest first-tier WGS series published in 2026 +2; transposable European benchmark +2; phenotype/specialty stratification +2