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The current state of clinical interpretation of sequence variants.
Curr Opin Genet Dev. 2017 Feb;42:33-39. doi: 10.1016/j.gde.2017.01.001. Epub 2017 Jan 31.
Curr Opin Genet Dev. 2017.
PMID: 28157586
Free PMC article.
Review.
Considerations for clinical curation, classification, and reporting of low-penetrance and low effect size variants associated with disease risk.
Senol-Cosar O, Schmidt RJ, Qian E, Hoskinson D, Mason-Suares H, Funke B, Lebo MS.
Senol-Cosar O, et al.
Genet Med. 2019 Dec;21(12):2765-2773. doi: 10.1038/s41436-019-0560-8. Epub 2019 May 31.
Genet Med. 2019.
PMID: 31147632
Free article.
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Exome Sequencing-Based Screening for BRCA1/2 Expected Pathogenic Variants Among Adult Biobank Participants.
Manickam K, Buchanan AH, Schwartz MLB, Hallquist MLG, Williams JL, Rahm AK, Rocha H, Savatt JM, Evans AE, Butry LM, Lazzeri AL, Lindbuchler DM, Flansburg CN, Leeming R, Vogel VG, Lebo MS, Mason-Suares HM, Hoskinson DC, Abul-Husn NS, Dewey FE, Overton JD, Reid JG, Baras A, Willard HF, McCormick CZ, Krishnamurthy SB, Hartzel DN, Kost KA, Lavage DR, Sturm AC, Frisbie LR, Person TN, Metpally RP, Giovanni MA, Lowry LE, Leader JB, Ritchie MD, Carey DJ, Justice AE, Kirchner HL, Faucett WA, Williams MS, Ledbetter DH, Murray MF.
Manickam K, et al. Among authors: hoskinson dc.
JAMA Netw Open. 2018 Sep 7;1(5):e182140. doi: 10.1001/jamanetworkopen.2018.2140.
JAMA Netw Open. 2018.
PMID: 30646163
Free PMC article.
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Tumor Mutational Burden From Tumor-Only Sequencing Compared With Germline Subtraction From Paired Tumor and Normal Specimens.
Parikh K, Huether R, White K, Hoskinson D, Beaubier N, Dong H, Adjei AA, Mansfield AS.
Parikh K, et al.
JAMA Netw Open. 2020 Feb 5;3(2):e200202. doi: 10.1001/jamanetworkopen.2020.0202.
JAMA Netw Open. 2020.
PMID: 32108894
Free PMC article.
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Integrated genomic profiling expands clinical options for patients with cancer.
Beaubier N, Bontrager M, Huether R, Igartua C, Lau D, Tell R, Bobe AM, Bush S, Chang AL, Hoskinson DC, Khan AA, Kudalkar E, Leibowitz BD, Lozachmeur A, Michuda J, Parsons J, Perera JF, Salahudeen A, Shah KP, Taxter T, Zhu W, White KP.
Beaubier N, et al. Among authors: hoskinson dc.
Nat Biotechnol. 2019 Nov;37(11):1351-1360. doi: 10.1038/s41587-019-0259-z. Epub 2019 Sep 30.
Nat Biotechnol. 2019.
PMID: 31570899
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