Use of genome sequencing to hunt for cryptic second-hit variants: analysis of 31 cases recruited to the 100 000 Genomes Project.
Moore AR, Yu J, Pei Y, Cheng EWY, Taylor Tavares AL, Walker WT, Thomas NS, Kamath A, Ibitoye R, Josifova D, Wilsdon A, Ross A, Calder AD, Offiah AC, Wilkie AOM; Genomics England Research Consortium; Taylor JC, Pagnamenta AT.
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J Med Genet. 2023 Nov 27;60(12):1235-1244. doi: 10.1136/jmg-2023-109362.
J Med Genet. 2023.
PMID: 37558402
Free PMC article.