Why do rare disease cases remain unsolved after WGS? In 24 SGP families, ONT long-read + phenotype-led SV analysis found 3 diagnoses. All 3 SVs were also recoverable from Illumina data. The bottleneck isn’t sequencing alone—it’s interpretation. www.nature.com/articles/s41...
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Detecting pathogenic structural variation in families with undiagnosed rare disease in a national genome project - European Journal of Human Genetics
European Journal of Human Genetics - Detecting pathogenic structural variation in families with undiagnosed rare disease in a national genome project
