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PANGENOMES AID ACCURATE DETECTION OF LARGE INSERTION AND DELETIONS FROM GENE PANEL DATA: THE CASE OF CARDIOMYOPATHIES

2024-12-02

Abstract excerpt

<h4>ABSTRACT</h4> Gene panels represent a widely used strategy for genetic testing in a vast range of Mendelian disorders. While this approach aids reliable bioinformatic detection of short coding variants, it fails to detect most larger variants. Recent studies have recommended the adoption of pangenomes to augment detection of large variants from targeted sequencing, potentially providing diagnostic laboratories...

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Literature Corpus work: 75e9043b-461f-5be7-8456-ffd61e4e1282
DOI: 10.1101/2024.11.27.24318059

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