Structural and non-coding variants increase the diagnostic yield of clinical whole genome sequencing for rare diseases.
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Pagnamenta AT, et al. Among authors: lines ke.
Genome Med. 2023 Nov 9;15(1):94. doi: 10.1186/s13073-023-01240-0.
Genome Med. 2023.
PMID: 37946251
Free PMC article.
