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Poison exon annotations improve the yield of clinically relevant variants in genomic diagnostic testing.
Genet Med. 2023 Aug;25(8):100884. doi: 10.1016/j.gim.2023.100884. Epub 2023 May 6.
Genet Med. 2023.
PMID: 37161864
Combined Bioinformatic and Splicing Analysis of Likely Benign Intronic and Synonymous Variants Reveals Evidence for Pathogenicity.
Hirschi OR, Felker SA, Rednam SP, Vallance KL, Parsons DW, Roy A, Cooper GM, Plon SE.
Hirschi OR, et al.
medRxiv [Preprint]. 2023 Nov 1:2023.10.30.23297632. doi: 10.1101/2023.10.30.23297632.
medRxiv. 2023.
PMID: 37961416
Free PMC article.
Preprint.
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