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Use of Biosynthetic Controls as Performance Standards for Next-Generation Sequencing Assays of Somatic Tumors: A Multilaboratory Study.
De Abreu FB, Peterson JD, Deharvengt SJ, Daber R, Sarsani VK, Spotlow V, Harrington RD, Lih CJ, Williams PM, Bouk CH, Konigshofer Y, Huang C, Anekella B, Davis L, Garlick RK, Ferreira-Gonzalez A, Dumur CI, Fernandes H, Haralampu S, Tsongalis GJ. De Abreu FB, et al. Among authors: huang c. J Appl Lab Med. 2017 Sep 1;2(2):138-149. doi: 10.1373/jalm.2017.023085. J Appl Lab Med. 2017. PMID: 32630970
One in seven pathogenic variants can be challenging to detect by NGS: an analysis of 450,000 patients with implications for clinical sensitivity and genetic test implementation.
Lincoln SE, Hambuch T, Zook JM, Bristow SL, Hatchell K, Truty R, Kennemer M, Shirts BH, Fellowes A, Chowdhury S, Klee EW, Mahamdallie S, Cleveland MH, Vallone PM, Ding Y, Seal S, DeSilva W, Tomson FL, Huang C, Garlick RK, Rahman N, Salit M, Kingsmore SF, Ferber MJ, Aradhya S, Nussbaum RL. Lincoln SE, et al. Among authors: huang c. Genet Med. 2021 Sep;23(9):1673-1680. doi: 10.1038/s41436-021-01187-w. Epub 2021 May 18. Genet Med. 2021. PMID: 34007000 Free PMC article.
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