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Multilaboratory Assessment of a New Reference Material for Quality Assurance of Cell-Free Tumor DNA Measurements.
He HJ, Stein EV, Konigshofer Y, Forbes T, Tomson FL, Garlick R, Yamada E, Godfrey T, Abe T, Tamura K, Borges M, Goggins M, Elmore S, Gulley ML, Larson JL, Ringel L, Haynes BC, Karlovich C, Williams PM, Garnett A, Ståhlberg A, Filges S, Sorbara L, Young MR, Srivastava S, Cole KD. He HJ, et al. Among authors: tomson fl. J Mol Diagn. 2019 Jul;21(4):658-676. doi: 10.1016/j.jmoldx.2019.03.006. Epub 2019 May 2. J Mol Diagn. 2019. PMID: 31055023 Free PMC article.
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: tomson fl. 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.
20 results