Article

Low-cost rare variant detection for population scale genetic screening

2026-07-10

Abstract excerpt

<h4>ABSTRACT</h4> Genetic screening for rare pathogenic variants facilitates early detection and prevention of disease manifestations in medically actionable disorders, but sequencing costs limit widespread use. We introduce DoBSeq, a low-cost, high-throughput screening framework for detecting rare, single-nucleotide variants and indels. The framework includes: extraction of DNA from dried blood spots used in neo...

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Literature Corpus work: 467d6d1a-92e8-5313-8f25-53200562214a
DOI: 10.64898/2026.07.07.26357001

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