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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: ding y. 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.
A Randomized, Controlled Trial of the Analytic and Diagnostic Performance of Singleton and Trio, Rapid Genome and Exome Sequencing in Ill Infants.
Kingsmore SF, Cakici JA, Clark MM, Gaughran M, Feddock M, Batalov S, Bainbridge MN, Carroll J, Caylor SA, Clarke C, Ding Y, Ellsworth K, Farnaes L, Hildreth A, Hobbs C, James K, Kint CI, Lenberg J, Nahas S, Prince L, Reyes I, Salz L, Sanford E, Schols P, Sweeney N, Tokita M, Veeraraghavan N, Watkins K, Wigby K, Wong T, Chowdhury S, Wright MS, Dimmock D; RCIGM Investigators. Kingsmore SF, et al. Among authors: ding y. Am J Hum Genet. 2019 Oct 3;105(4):719-733. doi: 10.1016/j.ajhg.2019.08.009. Epub 2019 Sep 26. Am J Hum Genet. 2019. PMID: 31564432 Free PMC article. Clinical Trial.
Mortality in a neonate with molybdenum cofactor deficiency illustrates the need for a comprehensive rapid precision medicine system.
Kingsmore SF, Ramchandar N, James K, Niemi AK, Feigenbaum A, Ding Y, Benson W, Hobbs C, Nahas S, Chowdhury S, Dimmock D. Kingsmore SF, et al. Among authors: ding y. Cold Spring Harb Mol Case Stud. 2020 Feb 3;6(1):a004705. doi: 10.1101/mcs.a004705. Print 2020 Feb. Cold Spring Harb Mol Case Stud. 2020. PMID: 32014857 Free PMC article.
An automated 13.5 hour system for scalable diagnosis and acute management guidance for genetic diseases.
Owen MJ, Lefebvre S, Hansen C, Kunard CM, Dimmock DP, Smith LD, Scharer G, Mardach R, Willis MJ, Feigenbaum A, Niemi AK, Ding Y, Van Der Kraan L, Ellsworth K, Guidugli L, Lajoie BR, McPhail TK, Mehtalia SS, Chau KK, Kwon YH, Zhu Z, Batalov S, Chowdhury S, Rego S, Perry J, Speziale M, Nespeca M, Wright MS, Reese MG, De La Vega FM, Azure J, Frise E, Rigby CS, White S, Hobbs CA, Gilmer S, Knight G, Oriol A, Lenberg J, Nahas SA, Perofsky K, Kim K, Carroll J, Coufal NG, Sanford E, Wigby K, Weir J, Thomson VS, Fraser L, Lazare SS, Shin YH, Grunenwald H, Lee R, Jones D, Tran D, Gross A, Daigle P, Case A, Lue M, Richardson JA, Reynders J, Defay T, Hall KP, Veeraraghavan N, Kingsmore SF. Owen MJ, et al. Among authors: ding y. Nat Commun. 2022 Jul 26;13(1):4057. doi: 10.1038/s41467-022-31446-6. Nat Commun. 2022. PMID: 35882841 Free PMC article.
An RCT of Rapid Genomic Sequencing among Seriously Ill Infants Results in High Clinical Utility, Changes in Management, and Low Perceived Harm.
Dimmock DP, Clark MM, Gaughran M, Cakici JA, Caylor SA, Clarke C, Feddock M, Chowdhury S, Salz L, Cheung C, Bird LM, Hobbs C, Wigby K, Farnaes L, Bloss CS, Kingsmore SF; RCIGM Investigators. Dimmock DP, et al. Am J Hum Genet. 2020 Nov 5;107(5):942-952. doi: 10.1016/j.ajhg.2020.10.003. Am J Hum Genet. 2020. PMID: 33157007 Free PMC article. Clinical Trial.
Publisher Correction: Rapid whole genome sequencing impacts care and resource utilization in infants with congenital heart disease.
Sweeney NM, Nahas SA, Chowdhury S, Batalov S, Clark M, Caylor S, Cakici J, Nigro JJ, Ding Y, Veeraraghavan N, Hobbs C, Dimmock D, Kingsmore SF. Sweeney NM, et al. Among authors: ding y. NPJ Genom Med. 2021 May 26;6(1):39. doi: 10.1038/s41525-021-00206-8. NPJ Genom Med. 2021. PMID: 34039980 Free PMC article. No abstract available.
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