Article

Structural variant discovery and diagnostic impact in rare diseases from short-read and long-read sequencing

2026-06-24

Abstract excerpt

Rare diseases collectively affect 1 in 10 individuals, yet current genetic testing fails to identify a causal variant for most cases. At present, cytogenetic methods and/or sequencing approaches such as exome (ES) or short-read genome sequencing (srGS) represent the state-of-the-art for comprehensive clinical discovery of sequence and structural variants (SVs), including copy number variants, balanced SVs, complex...

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Literature Corpus work: f8f95f7c-1ca6-5517-a327-66946fef4397
DOI: 10.64898/2026.06.22.26356238

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