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Page 1
Bioinformatics for clinical next generation sequencing.
Oliver GR, Hart SN, Klee EW. Oliver GR, et al. Among authors: hart sn. Clin Chem. 2015 Jan;61(1):124-35. doi: 10.1373/clinchem.2014.224360. Epub 2014 Dec 1. Clin Chem. 2015. PMID: 25451870 Review.
PatternCNV: a versatile tool for detecting copy number changes from exome sequencing data.
Wang C, Evans JM, Bhagwate AV, Prodduturi N, Sarangi V, Middha M, Sicotte H, Vedell PT, Hart SN, Oliver GR, Kocher JP, Maurer MJ, Novak AJ, Slager SL, Cerhan JR, Asmann YW. Wang C, et al. Among authors: hart sn. Bioinformatics. 2014 Sep 15;30(18):2678-80. doi: 10.1093/bioinformatics/btu363. Epub 2014 May 29. Bioinformatics. 2014. PMID: 24876377 Free PMC article.
Sentieon DNASeq Variant Calling Workflow Demonstrates Strong Computational Performance and Accuracy.
Kendig KI, Baheti S, Bockol MA, Drucker TM, Hart SN, Heldenbrand JR, Hernaez M, Hudson ME, Kalmbach MT, Klee EW, Mattson NR, Ross CA, Taschuk M, Wieben ED, Wiepert M, Wildman DE, Mainzer LS. Kendig KI, et al. Among authors: hart sn. Front Genet. 2019 Aug 20;10:736. doi: 10.3389/fgene.2019.00736. eCollection 2019. Front Genet. 2019. PMID: 31481971 Free PMC article.
Recommendations for performance optimizations when using GATK3.8 and GATK4.
Heldenbrand JR, Baheti S, Bockol MA, Drucker TM, Hart SN, Hudson ME, Iyer RK, Kalmbach MT, Kendig KI, Klee EW, Mattson NR, Wieben ED, Wiepert M, Wildman DE, Mainzer LS. Heldenbrand JR, et al. Among authors: hart sn. BMC Bioinformatics. 2019 Nov 8;20(1):557. doi: 10.1186/s12859-019-3169-7. BMC Bioinformatics. 2019. PMID: 31703611 Free PMC article.
Correction to: Recommendations for performance optimizations when using GATK3.8 and GATK4.
Heldenbrand JR, Baheti S, Bockol MA, Drucker TM, Hart SN, Hudson ME, Iyer RK, Kalmbach MT, Kendig KI, Klee EW, Mattson NR, Wieben ED, Wiepert M, Wildman DE, Mainzer LS. Heldenbrand JR, et al. Among authors: hart sn. BMC Bioinformatics. 2019 Dec 17;20(1):722. doi: 10.1186/s12859-019-3277-4. BMC Bioinformatics. 2019. PMID: 31847808 Free PMC article.
Design considerations for workflow management systems use in production genomics research and the clinic.
Ahmed AE, Allen JM, Bhat T, Burra P, Fliege CE, Hart SN, Heldenbrand JR, Hudson ME, Istanto DD, Kalmbach MT, Kapraun GD, Kendig KI, Kendzior MC, Klee EW, Mattson N, Ross CA, Sharif SM, Venkatakrishnan R, Fadlelmola FM, Mainzer LS. Ahmed AE, et al. Among authors: hart sn. Sci Rep. 2021 Nov 4;11(1):21680. doi: 10.1038/s41598-021-99288-8. Sci Rep. 2021. PMID: 34737383 Free PMC article.
Evaluation of ACMG-Guideline-Based Variant Classification of Cancer Susceptibility and Non-Cancer-Associated Genes in Families Affected by Breast Cancer.
Maxwell KN, Hart SN, Vijai J, Schrader KA, Slavin TP, Thomas T, Wubbenhorst B, Ravichandran V, Moore RM, Hu C, Guidugli L, Wenz B, Domchek SM, Robson ME, Szabo C, Neuhausen SL, Weitzel JN, Offit K, Couch FJ, Nathanson KL. Maxwell KN, et al. Among authors: hart sn. Am J Hum Genet. 2016 May 5;98(5):801-817. doi: 10.1016/j.ajhg.2016.02.024. Am J Hum Genet. 2016. PMID: 27153395 Free PMC article.
143 results