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Low-level parental somatic mosaic SNVs in exomes from a large cohort of trios with diverse suspected Mendelian conditions.
Gambin T, Liu Q, Karolak JA, Grochowski CM, Xie NG, Wu LR, Yan YH, Cao Y, Coban Akdemir ZH, Wilson TA, Jhangiani SN, Chen E, Eng CM, Muzny D, Posey JE, Yang Y, Zhang DY, Shaw C, Liu P, Lupski JR, Stankiewicz P. Gambin T, et al. Among authors: zhang dy. Genet Med. 2020 Nov;22(11):1768-1776. doi: 10.1038/s41436-020-0897-z. Epub 2020 Jul 13. Genet Med. 2020. PMID: 32655138 Free PMC article.
Calibration-free NGS quantitation of mutations below 0.01% VAF.
Dai P, Wu LR, Chen SX, Wang MX, Cheng LY, Zhang JX, Hao P, Yao W, Zarka J, Issa GC, Kwong L, Zhang DY. Dai P, et al. Among authors: zhang dy, zhang jx. Nat Commun. 2021 Oct 21;12(1):6123. doi: 10.1038/s41467-021-26308-6. Nat Commun. 2021. PMID: 34675197 Free PMC article.
1,057 results