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The Return of Actionable Variants Empirical (RAVE) Study, a Mayo Clinic Genomic Medicine Implementation Study: Design and Initial Results.
Kullo IJ, Olson J, Fan X, Jose M, Safarova M, Radecki Breitkopf C, Winkler E, Kochan DC, Snipes S, Pacyna JE, Carney M, Chute CG, Gupta J, Jose S, Venner E, Murugan M, Jiang Y, Zordok M, Farwati M, Philogene M, Smith E, Shaibi GQ, Caraballo P, Freimuth R, Lindor NM, Sharp R, Thibodeau SN. Kullo IJ, et al. Among authors: gupta j. Mayo Clin Proc. 2018 Nov;93(11):1600-1610. doi: 10.1016/j.mayocp.2018.06.026. Mayo Clin Proc. 2018. PMID: 30392543 Free PMC article.
Chromatin stretch enhancer states drive cell-specific gene regulation and harbor human disease risk variants.
Parker SC, Stitzel ML, Taylor DL, Orozco JM, Erdos MR, Akiyama JA, van Bueren KL, Chines PS, Narisu N; NISC Comparative Sequencing Program; Black BL, Visel A, Pennacchio LA, Collins FS; National Institutes of Health Intramural Sequencing Center Comparative Sequencing Program Authors; NISC Comparative Sequencing Program Authors. Parker SC, et al. Proc Natl Acad Sci U S A. 2013 Oct 29;110(44):17921-6. doi: 10.1073/pnas.1317023110. Epub 2013 Oct 14. Proc Natl Acad Sci U S A. 2013. PMID: 24127591 Free PMC article.
Whole-genome sequencing identifies a recurrent functional synonymous mutation in melanoma.
Gartner JJ, Parker SC, Prickett TD, Dutton-Regester K, Stitzel ML, Lin JC, Davis S, Simhadri VL, Jha S, Katagiri N, Gotea V, Teer JK, Wei X, Morken MA, Bhanot UK; NISC Comparative Sequencing Program; Chen G, Elnitski LL, Davies MA, Gershenwald JE, Carter H, Karchin R, Robinson W, Robinson S, Rosenberg SA, Collins FS, Parmigiani G, Komar AA, Kimchi-Sarfaty C, Hayward NK, Margulies EH, Samuels Y. Gartner JJ, et al. Proc Natl Acad Sci U S A. 2013 Aug 13;110(33):13481-6. doi: 10.1073/pnas.1304227110. Epub 2013 Jul 30. Proc Natl Acad Sci U S A. 2013. PMID: 23901115 Free PMC article.
Effort required to finish shotgun-generated genome sequences differs significantly among vertebrates.
Blakesley RW, Hansen NF, Gupta J, McDowell JC, Maskeri B, Barnabas BB, Brooks SY, Coleman H, Haghighi P, Ho SL, Schandler K, Stantripop S, Vogt JL, Thomas PJ; NISC Comparative Sequencing Program; Bouffard GG, Green ED. Blakesley RW, et al. Among authors: gupta j. BMC Genomics. 2010 Jan 11;11:21. doi: 10.1186/1471-2164-11-21. BMC Genomics. 2010. PMID: 20064230 Free PMC article.
Using exome data to identify malignant hyperthermia susceptibility mutations.
Gonsalves SG, Ng D, Johnston JJ, Teer JK, Stenson PD, Cooper DN, Mullikin JC, Biesecker LG; NISC Comparative Sequencing Program. Gonsalves SG, et al. Anesthesiology. 2013 Nov;119(5):1043-53. doi: 10.1097/ALN.0b013e3182a8a8e7. Anesthesiology. 2013. PMID: 24195946 Free PMC article.
Mining the antibodyome for HIV-1-neutralizing antibodies with next-generation sequencing and phylogenetic pairing of heavy/light chains.
Zhu J, Ofek G, Yang Y, Zhang B, Louder MK, Lu G, McKee K, Pancera M, Skinner J, Zhang Z, Parks R, Eudailey J, Lloyd KE, Blinn J, Alam SM, Haynes BF, Simek M, Burton DR, Koff WC; NISC Comparative Sequencing Program; Mullikin JC, Mascola JR, Shapiro L, Kwong PD. Zhu J, et al. Proc Natl Acad Sci U S A. 2013 Apr 16;110(16):6470-5. doi: 10.1073/pnas.1219320110. Epub 2013 Mar 27. Proc Natl Acad Sci U S A. 2013. PMID: 23536288 Free PMC article.
Genomic organization, evolution, and expression of photoprotein and opsin genes in Mnemiopsis leidyi: a new view of ctenophore photocytes.
Schnitzler CE, Pang K, Powers ML, Reitzel AM, Ryan JF, Simmons D, Tada T, Park M, Gupta J, Brooks SY, Blakesley RW, Yokoyama S, Haddock SH, Martindale MQ, Baxevanis AD. Schnitzler CE, et al. Among authors: gupta j. BMC Biol. 2012 Dec 21;10:107. doi: 10.1186/1741-7007-10-107. BMC Biol. 2012. PMID: 23259493 Free PMC article.
Comparative analyses of multi-species sequences from targeted genomic regions.
Thomas JW, Touchman JW, Blakesley RW, Bouffard GG, Beckstrom-Sternberg SM, Margulies EH, Blanchette M, Siepel AC, Thomas PJ, McDowell JC, Maskeri B, Hansen NF, Schwartz MS, Weber RJ, Kent WJ, Karolchik D, Bruen TC, Bevan R, Cutler DJ, Schwartz S, Elnitski L, Idol JR, Prasad AB, Lee-Lin SQ, Maduro VV, Summers TJ, Portnoy ME, Dietrich NL, Akhter N, Ayele K, Benjamin B, Cariaga K, Brinkley CP, Brooks SY, Granite S, Guan X, Gupta J, Haghighi P, Ho SL, Huang MC, Karlins E, Laric PL, Legaspi R, Lim MJ, Maduro QL, Masiello CA, Mastrian SD, McCloskey JC, Pearson R, Stantripop S, Tiongson EE, Tran JT, Tsurgeon C, Vogt JL, Walker MA, Wetherby KD, Wiggins LS, Young AC, Zhang LH, Osoegawa K, Zhu B, Zhao B, Shu CL, De Jong PJ, Lawrence CE, Smit AF, Chakravarti A, Haussler D, Green P, Miller W, Green ED. Thomas JW, et al. Among authors: gupta j. Nature. 2003 Aug 14;424(6950):788-93. doi: 10.1038/nature01858. Nature. 2003. PMID: 12917688
1,754 results