Initial sequencing and analysis of the human genome

Autor: Lander, ES, Linton, LM, Birren, B, Nusbaum, C, Zody, MC, Baldwin, J, Devon, K, Dewar, K, Doyle, M, FitzHugh, W, Funke, R, Gage, D, Harris, K, Heaford, A, Howland, J, Kann, L, Lehoczky, J, LeVine, R, McEwan, P, McKernan, K, Meldrim, J, Mesirov, JP, Miranda, C, Morris, W, Naylor, J, Raymond, C, Rosetti, M, Santos, R, Sheridan, A, Sougnez, C, Stange-Thomann, N, Stojanovic, N, Subramanian, A, Wyman, D, Rogers, J, Sulston, J, Ainscough, R, Beck, S, Bentley, D, Burton, J, Clee, C, Carter, N, Coulson, A, Deadman, R, Deloukas, P, Dunham, A, Dunham, I, Durbin, R, French, L, Grafham, D, Gregory, S, Hubbard, T, Humphray, S, Hunt, A, Jones, M, Lloyd, C, McMurray, A, Matthews, L, Mercer, S, Milne, S, Mullikin, JC, Mungall, A, Plumb, R, Ross, M, Shownkeen, R, Sims, S, Waterston, RH, Wilson, RK, Hillier, LW, McPherson, JD, Marra, MA, Mardis, ER, Fulton, LA, Chinwalla, AT, Pepin, KH, Gish, WR, Chissoe, SL, Wendl, MC, Delehaunty, KD, Miner, TL, Delehaunty, A, Kramer, JB, Cook, LL, Fulton, RS, Johnson, DL, Minx, PJ, Clifton, SW, Hawkins, T, Branscomb, E, Predki, P, Richardson, P, Wenning, S, Slezak, T, Doggett, N, Cheng, JF, Olsen, A, Lucas, S, Elkin, C, Uberbacher, E, Frazier, M, Gibbs, RA, Muzny, DM, Scherer, SE, Bouck, JB, Sodergren, EJ, Worley, KC, Rives, CM, Gorrell, JH, Metzker, ML, Naylor, SL, Kucherlapati, RS, Nelson, DL, Weinstock, GM, Sakaki, Y, Fujiyama, A, Hattori, M, Yada, T, Toyoda, A, Itoh, T, Kawagoe, C, Watanabe, H, Totoki, Y, Taylor, T, Weissenbach, J, Heilig, R, Saurin, W, Artiguenave, F, Brottier, P, Bruls, T, Pelletier, E, Robert, C, Wincker, P, Smith, DR, Doucette-Stamm, L, Rubenfield, M, Weinstock, K, Lee, HM, Dubois, J, Rosenthal, A, Platzer, M, Nyakatura, G, Taudien, S, Rump, A, Yang, H, Yu, J, Wang, J, Huang, G, Gu, J, Hood, L, Rowen, L, Madan, A, Qin, S, Davis, RW, Federspiel, NA, Abola, AP, Proctor, MJ, Myers, RM, Schmutz, J, Dickson, M, Grimwood, J, Cox, DR, Olson, MV, Kaul, R, Shimizu, N, Kawasaki, K, Minoshima, S, Evans, GA, Athanasiou, M, Schultz, R, Roe, BA, Chen, F, Pan, H, Ramser, J, Lehrach, H, Reinhardt, R, McCombie, WR, de la Bastide, M, Dedhia, N, Blöcker, H, Hornischer, K, Nordsiek, G, Agarwala, R, Aravind, L, Bailey, JA, Bateman, A, Batzoglou, S, Birney, E, Bork, P, Brown, DG, Burge, CB, Cerutti, L, Chen, HC, Church, D, Clamp, M, Copley, RR, Doerks, T, Eddy, SR, Eichler, EE, Furey, TS, Galagan, J, Gilbert, JG, Harmon, C, Hayashizaki, Y, Haussler, D, Hermjakob, H, Hokamp, K, Jang, W, Johnson, LS, Jones, TA, Kasif, S, Kaspryzk, A, Kennedy, S, Kent, WJ, Kitts, P, Koonin, EV, Korf, I, Kulp, D, Lancet, D, Lowe, TM, McLysaght, A, Mikkelsen, T, Moran, JV, Mulder, N, Pollara, VJ, Ponting, CP, Schuler, G, Schultz, J, Slater, G, Smit, AF, Stupka, E, Szustakowski, J, Thierry-Mieg, D, Thierry-Mieg, J, Wagner, L, Wallis, J, Wheeler, R, Williams, A, Wolf, YI, Wolfe, KH, Yang, SP, Yeh, RF, Collins, F, Guyer, MS, Peterson, J, Felsenfeld, A, Wetterstrand, KA, Patrinos, A, Morgan, MJ, de Jong, P, Catanese, JJ, Osoegawa, K, Shizuya, H, Choi, S, Chen, YJ, Szustakowki, J

Publikováno v: ResearcherID

The human genome holds an extraordinary trove of information about human development, physiology, medicine and evolution. Here we report the results of an international collaboration to produce and make freely available a draft sequence of the human

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0c279516311a003cd472ea5e75cf1430
https://doi.org/10.1038/35057062

Modeling performance of sample collection sites using whole exome sequencing metrics.

Autor: Kalinava N; Bristol Myers Squibb, Princeton, NJ 08648 USA., Apfel A; Bristol Myers Squibb, Princeton, NJ 08648 USA., Cartmell R; Bristol Myers Squibb, Princeton, NJ 08648 USA., Srinivasan S; Bristol Myers Squibb, Princeton, NJ 08648 USA., Chien MS; Bristol Myers Squibb, Princeton, NJ 08648 USA., Kim KI; Bristol Myers Squibb, Princeton, NJ 08648 USA., Golhar R; Bristol Myers Squibb, Princeton, NJ 08648 USA., Bednarz KE; Bristol Myers Squibb, Princeton, NJ 08648 USA., Pant S; Bristol Myers Squibb, Princeton, NJ 08648 USA., Szustakowski J; Bristol Myers Squibb, Princeton, NJ 08648 USA., Chasalow SD; Bristol Myers Squibb, Princeton, NJ 08648 USA., Sasson A; Bristol Myers Squibb, Princeton, NJ 08648 USA., Kirov S; Bristol Myers Squibb, Princeton, NJ 08648 USA.

Publikováno v: BioTechniques [Biotechniques] 2020 Dec; Vol. 69 (6), pp. 420-426. Date of Electronic Publication: 2020 Oct 26.

P086 Toward the Standardization of Bioinformatics Methods for the Accurate Assessment of Tumor Mutational Burden (TMB)

Autor: Chang, H., Srinivasan, S., Sasson, A., Golhar, R., Greenawalt, D., Kirov, S., Szustakowski, J., Ip, V.

Publikováno v: In Journal of Thoracic Oncology December 2018 13(12) Supplement:S1079-S1079

Benchmarking transcriptome deconvolution methods for estimating tissue‐ and cell‐type‐specific extracellular vesicle abundances.

Autor: Larsen, Jannik Hjortshøj¹ (AUTHOR), Jensen, Iben Skov¹ (AUTHOR), Svenningsen, Per¹ (AUTHOR) psvenningsen@health.sdu.dk

Publikováno v: Journal of Extracellular Vesicles. Sep2024, Vol. 13 Issue 9, p1-16. 16p.

STK11/LKB1 Mutations and PD-1 Inhibitor Resistance in KRAS -Mutant Lung Adenocarcinoma.

Autor: Skoulidis F; Department of Thoracic and Head and Neck Medical Oncology, The University of Texas MD Anderson Cancer Center, Houston, Texas., Goldberg ME; Foundation Medicine Inc., Cambridge, Massachusetts., Greenawalt DM; Bristol-Myers Squibb Co., Princeton, New Jersey., Hellmann MD; Druckenmiller Center for Lung Cancer Research and Department of Medicine, Thoracic Oncology Service, Memorial Sloan Kettering Cancer Center, New York, New York., Awad MM; Lowe Center for Thoracic Oncology and Department of Medical Oncology, Dana-Farber Cancer Institute, Boston, Massachusetts., Gainor JF; Department of Medicine, Massachusetts General Hospital, Boston, Massachusetts., Schrock AB; Foundation Medicine Inc., Cambridge, Massachusetts., Hartmaier RJ; Foundation Medicine Inc., Cambridge, Massachusetts., Trabucco SE; Foundation Medicine Inc., Cambridge, Massachusetts., Gay L; Foundation Medicine Inc., Cambridge, Massachusetts., Ali SM; Foundation Medicine Inc., Cambridge, Massachusetts., Elvin JA; Foundation Medicine Inc., Cambridge, Massachusetts., Singal G; Foundation Medicine Inc., Cambridge, Massachusetts., Ross JS; Foundation Medicine Inc., Cambridge, Massachusetts., Fabrizio D; Foundation Medicine Inc., Cambridge, Massachusetts., Szabo PM; Bristol-Myers Squibb Co., Princeton, New Jersey., Chang H; Bristol-Myers Squibb Co., Princeton, New Jersey., Sasson A; Bristol-Myers Squibb Co., Princeton, New Jersey., Srinivasan S; Bristol-Myers Squibb Co., Princeton, New Jersey., Kirov S; Bristol-Myers Squibb Co., Princeton, New Jersey., Szustakowski J; Bristol-Myers Squibb Co., Princeton, New Jersey., Vitazka P; Bristol-Myers Squibb Co., Princeton, New Jersey., Edwards R; Bristol-Myers Squibb Co., Princeton, New Jersey., Bufill JA; Michiana Hematology Oncology, Mishawaka, Indiana., Sharma N; Novartis Institute of Biomedical Research, East Hanover, New Jersey., Ou SI; Chao Family Comprehensive Cancer Center, University of California, Irvine, Orange, California., Peled N; Thoracic Cancer Unit, Davidoff Cancer Center, Petach Tiqwa, Israel.; Tel Aviv University, Tel Aviv, Israel., Spigel DR; Sarah Cannon Research Institute, Nashville, Tennessee., Rizvi H; Druckenmiller Center for Lung Cancer Research and Department of Medicine, Thoracic Oncology Service, Memorial Sloan Kettering Cancer Center, New York, New York., Aguilar EJ; Lowe Center for Thoracic Oncology and Department of Medical Oncology, Dana-Farber Cancer Institute, Boston, Massachusetts., Carter BW; Department of Diagnostic Radiology, The University of Texas MD Anderson Cancer Center, Houston, Texas., Erasmus J; Department of Diagnostic Radiology, The University of Texas MD Anderson Cancer Center, Houston, Texas., Halpenny DF; Department of Radiology, Memorial Sloan Kettering Cancer Center, New York, New York., Plodkowski AJ; Department of Radiology, Memorial Sloan Kettering Cancer Center, New York, New York., Long NM; Department of Radiology, Memorial Sloan Kettering Cancer Center, New York, New York., Nishino M; Department of Radiology, Brigham and Women's Hospital and Dana-Farber Cancer Institute, Boston, Massachusetts., Denning WL; Department of Thoracic and Head and Neck Medical Oncology, The University of Texas MD Anderson Cancer Center, Houston, Texas., Galan-Cobo A; Department of Thoracic and Head and Neck Medical Oncology, The University of Texas MD Anderson Cancer Center, Houston, Texas., Hamdi H; Department of Thoracic and Head and Neck Medical Oncology, The University of Texas MD Anderson Cancer Center, Houston, Texas., Hirz T; Department of Thoracic and Head and Neck Medical Oncology, The University of Texas MD Anderson Cancer Center, Houston, Texas., Tong P; Department of Bioinformatics and Computational Biology, The University of Texas MD Anderson Cancer Center, Houston, Texas., Wang J; Department of Bioinformatics and Computational Biology, The University of Texas MD Anderson Cancer Center, Houston, Texas., Rodriguez-Canales J; Department of Translational Molecular Pathology, The University of Texas MD Anderson Cancer Center, Houston, Texas., Villalobos PA; Department of Translational Molecular Pathology, The University of Texas MD Anderson Cancer Center, Houston, Texas., Parra ER; Department of Translational Molecular Pathology, The University of Texas MD Anderson Cancer Center, Houston, Texas., Kalhor N; Department of Pathology, The University of Texas MD Anderson Cancer Center, Houston, Texas., Sholl LM; Department of Pathology, Brigham and Women's Hospital, Boston, Massachusetts., Sauter JL; Department of Pathology, Memorial Sloan Kettering Cancer Center, New York, New York., Jungbluth AA; Department of Pathology, Memorial Sloan Kettering Cancer Center, New York, New York., Mino-Kenudson M; Department of Pathology, Massachusetts General Hospital, Boston, Massachusetts., Azimi R; Department of Medicine, Massachusetts General Hospital, Boston, Massachusetts., Elamin YY; Department of Thoracic and Head and Neck Medical Oncology, The University of Texas MD Anderson Cancer Center, Houston, Texas., Zhang J; Department of Thoracic and Head and Neck Medical Oncology, The University of Texas MD Anderson Cancer Center, Houston, Texas., Leonardi GC; Lowe Center for Thoracic Oncology and Department of Medical Oncology, Dana-Farber Cancer Institute, Boston, Massachusetts., Jiang F; Department of Statistics and Actuarial Science, The University of Hong Kong, Hong Kong, China.; Department of Biostatistics, The University of Texas MD Anderson Cancer Center, Houston, Texas., Wong KK; Perlmutter Cancer Center, NYU Langone Medical Center, New York, New York., Lee JJ; Department of Biostatistics, The University of Texas MD Anderson Cancer Center, Houston, Texas., Papadimitrakopoulou VA; Department of Thoracic and Head and Neck Medical Oncology, The University of Texas MD Anderson Cancer Center, Houston, Texas., Wistuba II; Department of Translational Molecular Pathology, The University of Texas MD Anderson Cancer Center, Houston, Texas., Miller VA; Foundation Medicine Inc., Cambridge, Massachusetts., Frampton GM; Foundation Medicine Inc., Cambridge, Massachusetts., Wolchok JD; Ludwig Center for Cancer Immunotherapy, Memorial Sloan Kettering Cancer Center, New York, New York., Shaw AT; Department of Medicine, Massachusetts General Hospital, Boston, Massachusetts., Jänne PA; Lowe Center for Thoracic Oncology and Department of Medical Oncology, Dana-Farber Cancer Institute, Boston, Massachusetts., Stephens PJ; Foundation Medicine Inc., Cambridge, Massachusetts., Rudin CM; Druckenmiller Center for Lung Cancer Research and Department of Medicine, Thoracic Oncology Service, Memorial Sloan Kettering Cancer Center, New York, New York., Geese WJ; Bristol-Myers Squibb Co., Princeton, New Jersey., Albacker LA; Foundation Medicine Inc., Cambridge, Massachusetts. jheymach@mdanderson.org lalbacker@foundationmedicine.com., Heymach JV; Department of Thoracic and Head and Neck Medical Oncology, The University of Texas MD Anderson Cancer Center, Houston, Texas. jheymach@mdanderson.org lalbacker@foundationmedicine.com.

Publikováno v: Cancer discovery [Cancer Discov] 2018 Jul; Vol. 8 (7), pp. 822-835. Date of Electronic Publication: 2018 May 17.