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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: vallone pm. 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.
Affine analysis for quantitative PCR measurements.
Patrone PN, Romsos EL, Cleveland MH, Vallone PM, Kearsley AJ. Patrone PN, et al. Among authors: vallone pm. Anal Bioanal Chem. 2020 Nov;412(28):7977-7988. doi: 10.1007/s00216-020-02930-z. Epub 2020 Sep 20. Anal Bioanal Chem. 2020. PMID: 32951064 Free PMC article.
Sequence-based US population data for the SE33 locus.
Borsuk LA, Gettings KB, Steffen CR, Kiesler KM, Vallone PM. Borsuk LA, et al. Among authors: vallone pm. Electrophoresis. 2018 Nov;39(21):2694-2701. doi: 10.1002/elps.201800091. Epub 2018 Jun 1. Electrophoresis. 2018. PMID: 29736954 Free PMC article.
Cautionary Note on Contamination of Reagents Used for Molecular Detection of SARS-CoV-2.
Huggett JF, Benes V, Bustin SA, Garson JA, Harris K, Kammel M, Kubista M, McHugh TD, Moran-Gilad J, Nolan T, Pfaffl MW, Salit M, Shipley G, Vallone PM, Vandesompele J, Wittwer C, Zeichhardt H. Huggett JF, et al. Among authors: vallone pm. Clin Chem. 2020 Nov 1;66(11):1369-1372. doi: 10.1093/clinchem/hvaa214. Clin Chem. 2020. PMID: 32894756 Free PMC article.
STR allele sequence variation: Current knowledge and future issues.
Gettings KB, Aponte RA, Vallone PM, Butler JM. Gettings KB, et al. Among authors: vallone pm. Forensic Sci Int Genet. 2015 Sep;18:118-30. doi: 10.1016/j.fsigen.2015.06.005. Epub 2015 Jul 6. Forensic Sci Int Genet. 2015. PMID: 26197946 Review.
102 results