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Long‐read nanopore DNA sequencing can resolve complex intragenic duplication/deletion variants, providing information to enable preimplantation genetic diagnosis

10 Jan 2022

Abstract excerpt

BACKGROUND: The adoption of massively parallel short-read DNA sequencing methods has greatly expanded the scope and availability of genetic testing for inherited diseases. Indeed, the power of these methods has encouraged the integration of whole genome sequencing, the most comprehensive single approach to genomic analysis, into clinical practice. Despite these advances, diagnostic techniques that incompletely...

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Share to Genomic variations and chromosomal abnormalities
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Share to Prenatal Screening and Diagnostics

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PMID: 35014072
DOI: 10.1002/pd.6089

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