Pangenomes aid accurate detection of large insertions and deletions from targeted sequencing: the case of cardiomyopathies

Abstract excerpt

Abstract Background 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 often fails to detect many larger variants. Recent studies have recommended the adoption of pangenome references (as opposed to linear reference genomes like GRCh38) to augment detection of large variants...

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• Cardiomyopathy and Myosin Studies
• Genetic Associations and Epidemiology
• Genomics and Rare Diseases

Identifiers and source

Literature Corpus work

5dc556a9-9d40-5475-9a6a-1c4da3bc3c24

DOI

10.1186/s13073-026-01749-0