Article

Improved structural variant discovery in hard-to-call regions using sample-specific string detection from accurate long reads

2022-02-14

Abstract excerpt

Structural variants (SVs) account for a large amount of sequence variability across genomes and play an important role in human genomics and precision medicine. Despite intense efforts over the years, the discovery of SVs in individuals remains challenging due to the diploid and highly repetitive structure of the human genome, and by the presence of SVs that vastly exceed sequencing read lengths. However, the rece...

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Literature Corpus work: a27dfd40-5d28-51b7-8e4a-ac20ac0f4780
DOI: 10.1101/2022.02.12.480198

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