Article

Structural variant calling and clinical interpretation in 6224 unsolved rare disease exomes

2023-10-29

Abstract excerpt

Structural variants (SVs), including large deletions, duplications, inversions, translocations, and complex SVs have the potential to disrupt gene function resulting in rare disease. Nevertheless, current pipelines and clinical decision support systems for exome sequencing (ES) tend to focus on small alterations such as single nucleotide variants (SNVs) and insertions-deletions shorter than 50 base pairs (indels)....

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Literature Corpus work: cc35a280-80fe-5914-8a8d-caa8e98a4bef
DOI: 10.1101/2023.10.28.23297720

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