Article

Constellation illuminates rare disease genetics

2025-10-17

Abstract excerpt

Despite significant advances in genomic sequencing, the resolution of many rare disease cases is still hindered by variant detection limitations. Short reads struggle in homologous regions, and long reads remain costly and difficult to scale. Here, we present the first systematic evaluation of Illumina’s Constellation sequencing technology for rare disease research. By fragmenting long DNA molecules directly on th...

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Literature Corpus work: cbf8b7e4-4595-5a82-92a4-17460b4dd854
DOI: 10.1101/2025.10.15.25337675

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