Zobrazeno 1 - 10
of 971
pro vyhledávání: '"von Grotthuss, M"'
Autor:
Noël P. Burtt, Leena Kuruvilla, Sebastian Boland, Maria C. Costanzo, Chandramohan Chitraju, von Grotthuss M, Mejhert N, Jason Flannick, Natalie Krahmer, Katlyn R. Gabriel, Farese Ra, Dongkeun Jang, Tobias C. Walther
SUMMARYLipid droplets (LDs) are organelles of cellular lipid storage with fundamental roles in energy metabolism and cell membrane homeostasis. There has been an explosion of research into the biology of LDs, in part due to their relevance in disease
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::dfc621564d774b8139d560330919f52b
https://doi.org/10.1101/2021.06.08.447431
https://doi.org/10.1101/2021.06.08.447431
Autor:
Costanzo MC; Programs in Metabolism and Medical & Population Genetics, The Broad Institute of MIT and Harvard, Cambridge, MA 02132, USA., von Grotthuss M; Programs in Metabolism and Medical & Population Genetics, The Broad Institute of MIT and Harvard, Cambridge, MA 02132, USA., Massung J; Programs in Metabolism and Medical & Population Genetics, The Broad Institute of MIT and Harvard, Cambridge, MA 02132, USA., Jang D; Programs in Metabolism and Medical & Population Genetics, The Broad Institute of MIT and Harvard, Cambridge, MA 02132, USA., Caulkins L; Programs in Metabolism and Medical & Population Genetics, The Broad Institute of MIT and Harvard, Cambridge, MA 02132, USA., Koesterer R; Programs in Metabolism and Medical & Population Genetics, The Broad Institute of MIT and Harvard, Cambridge, MA 02132, USA., Gilbert C; Programs in Metabolism and Medical & Population Genetics, The Broad Institute of MIT and Harvard, Cambridge, MA 02132, USA., Welch RP; Department of Biostatistics and The Center for Statistical Genetics, University of Michigan, Ann Arbor, MI 48109, USA., Kudtarkar P; Department of Pediatrics, University of California San Diego, La Jolla, CA 92161, USA., Hoang Q; Programs in Metabolism and Medical & Population Genetics, The Broad Institute of MIT and Harvard, Cambridge, MA 02132, USA., Boughton AP; Department of Biostatistics and The Center for Statistical Genetics, University of Michigan, Ann Arbor, MI 48109, USA., Singh P; Programs in Metabolism and Medical & Population Genetics, The Broad Institute of MIT and Harvard, Cambridge, MA 02132, USA., Sun Y; Department of Pediatrics, University of California San Diego, La Jolla, CA 92161, USA., Duby M; Programs in Metabolism and Medical & Population Genetics, The Broad Institute of MIT and Harvard, Cambridge, MA 02132, USA., Moriondo A; Programs in Metabolism and Medical & Population Genetics, The Broad Institute of MIT and Harvard, Cambridge, MA 02132, USA., Nguyen T; Programs in Metabolism and Medical & Population Genetics, The Broad Institute of MIT and Harvard, Cambridge, MA 02132, USA., Smadbeck P; Programs in Metabolism and Medical & Population Genetics, The Broad Institute of MIT and Harvard, Cambridge, MA 02132, USA., Alexander BR; Simulation and Modeling Sciences, Pfizer Worldwide Research, Development and Medical, Cambridge, MA 02139, USA., Brandes M; Programs in Metabolism and Medical & Population Genetics, The Broad Institute of MIT and Harvard, Cambridge, MA 02132, USA., Carmichael M; Programs in Metabolism and Medical & Population Genetics, The Broad Institute of MIT and Harvard, Cambridge, MA 02132, USA., Dornbos P; Programs in Metabolism and Medical & Population Genetics, The Broad Institute of MIT and Harvard, Cambridge, MA 02132, USA; Department of Pediatrics, Boston Children's Hospital, Boston, MA 02115, USA; Department of Pediatrics, Harvard Medical School, Boston, MA 02115, USA., Green T; Programs in Metabolism and Medical & Population Genetics, The Broad Institute of MIT and Harvard, Cambridge, MA 02132, USA., Huellas-Bruskiewicz KC; Programs in Metabolism and Medical & Population Genetics, The Broad Institute of MIT and Harvard, Cambridge, MA 02132, USA., Ji Y; European Molecular Biology Laboratory, European Bioinformatics Institute, Wellcome Genome Campus, Hinxton, Cambridge CB10 1SA, UK., Kluge A; Genomics Platform, The Broad Institute of MIT and Harvard, Cambridge, MA 02132, USA., McMahon AC; European Molecular Biology Laboratory, European Bioinformatics Institute, Wellcome Genome Campus, Hinxton, Cambridge CB10 1SA, UK., Mercader JM; Programs in Metabolism and Medical & Population Genetics, The Broad Institute of MIT and Harvard, Cambridge, MA 02132, USA; Department of Medicine, Harvard Medical School, Boston, MA 02115, USA; Diabetes Unit and Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA 02114, USA., Ruebenacker O; Programs in Metabolism and Medical & Population Genetics, The Broad Institute of MIT and Harvard, Cambridge, MA 02132, USA., Sengupta S; Department of Biostatistics and The Center for Statistical Genetics, University of Michigan, Ann Arbor, MI 48109, USA., Spalding D; European Molecular Biology Laboratory, European Bioinformatics Institute, Wellcome Genome Campus, Hinxton, Cambridge CB10 1SA, UK., Taliun D; Department of Biostatistics and The Center for Statistical Genetics, University of Michigan, Ann Arbor, MI 48109, USA., Smith P; National Institute of Diabetes and Digestive and Kidney Diseases, Bethesda, MD 20892, USA., Thomas MK; Tailored Therapeutics-Diabetes, Eli Lilly and Company, Lilly Corporate Center DC 0545, Indianapolis, IN 46285, USA., Akolkar B; National Institute of Diabetes and Digestive and Kidney Diseases, Bethesda, MD 20892, USA., Brosnan MJ; Internal Medicine Research Unit, Pfizer Worldwide Research, Development and Medical, Cambridge, MA 02139, USA., Cherkas A; Team Early Projects Type 1 Diabetes, Therapeutic Area Diabetes and Cardiovascular Medicine, Research & Development, Sanofi, Industriepark Höchst-H831, Frankfurt am Main 65926, Germany., Chu AY; Merck Research Laboratories, Boston, MA 02115, USA., Fauman EB; Integrative Biology, Internal Medicine Research Unit, Pfizer Worldwide Research, Development and Medical, Cambridge, MA 02139, USA., Fox CS; Merck Research Laboratories, Boston, MA 02115, USA., Kamphaus TN; Foundation for the National Institutes of Health, North Bethesda, MD 20852, USA., Miller MR; Internal Medicine Research Unit, Pfizer Worldwide Research, Development and Medical, Cambridge, MA 02139, USA., Nguyen L; Foundation for the National Institutes of Health, North Bethesda, MD 20852, USA., Parsa A; National Institute of Diabetes and Digestive and Kidney Diseases, Bethesda, MD 20892, USA., Reilly DF; Janssen Pharmaceuticals Inc., Titusville, NJ 08560, USA., Ruetten H; CardioMetabolism & Respiratory Medicine, Boehringer Ingelheim International GmbH, 55216 Ingelheim/Rhein, Germany., Wholley D; Foundation for the National Institutes of Health, North Bethesda, MD 20852, USA., Zaghloul NA; National Institute of Diabetes and Digestive and Kidney Diseases, Bethesda, MD 20892, USA., Abecasis GR; Department of Biostatistics and The Center for Statistical Genetics, University of Michigan, Ann Arbor, MI 48109, USA; Regeneron Pharmaceuticals, Tarrytown, NY 10591, USA., Altshuler D; Programs in Metabolism and Medical & Population Genetics, The Broad Institute of MIT and Harvard, Cambridge, MA 02132, USA., Keane TM; European Molecular Biology Laboratory, European Bioinformatics Institute, Wellcome Genome Campus, Hinxton, Cambridge CB10 1SA, UK., McCarthy MI; Wellcome Centre for Human Genetics, University of Oxford, Oxford OX3 9DU, UK; Oxford Centre for Diabetes Endocrinology & Metabolism, University of Oxford, Oxford OX3 7BN, UK., Gaulton KJ; Department of Pediatrics, University of California San Diego, La Jolla, CA 92161, USA., Florez JC; Programs in Metabolism and Medical & Population Genetics, The Broad Institute of MIT and Harvard, Cambridge, MA 02132, USA; Department of Medicine, Harvard Medical School, Boston, MA 02115, USA; Diabetes Unit and Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA 02114, USA., Boehnke M; Department of Biostatistics and The Center for Statistical Genetics, University of Michigan, Ann Arbor, MI 48109, USA., Burtt NP; Programs in Metabolism and Medical & Population Genetics, The Broad Institute of MIT and Harvard, Cambridge, MA 02132, USA. Electronic address: burtt@broadinstitute.org., Flannick J; Programs in Metabolism and Medical & Population Genetics, The Broad Institute of MIT and Harvard, Cambridge, MA 02132, USA; Department of Pediatrics, Boston Children's Hospital, Boston, MA 02115, USA; Department of Pediatrics, Harvard Medical School, Boston, MA 02115, USA. Electronic address: jason.flannick@childrens.harvard.edu.
Publikováno v:
Cell metabolism [Cell Metab] 2023 Apr 04; Vol. 35 (4), pp. 695-710.e6. Date of Electronic Publication: 2023 Mar 23.
Autor:
Kim H; Diabetes Unit, Massachusetts General Hospital, Boston, MA, USA.; Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA., Westerman KE; Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Clinical and Translational Epidemiology Unit, Massachusetts General Hospital, Boston, MA, USA., Smith K; Diabetes Unit, Massachusetts General Hospital, Boston, MA, USA.; Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA., Chiou J; Department of Pediatrics, University of California San Diego, San Diego, CA, USA., Cole JB; Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA.; Department of Medicine, Harvard Medical School, Boston, MA, USA.; Division of Endocrinology, Boston Children's Hospital, Boston, MA, USA.; Department of Biomedical Informatics, University of Colorado School of Medicine, Aurora, CO, USA., Majarian T; Broad Institute of MIT and Harvard, Cambridge, MA, USA., von Grotthuss M; Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Takeda Pharmaceuticals, Cambridge, MA, USA., Kwak SH; Department of Internal Medicine, Seoul National University Hospital, Seoul, Republic of Korea., Kim J; Broad Institute of MIT and Harvard, Cambridge, MA, USA.; GlaxoSmithKline, Cambridge, MA, USA., Mercader JM; Diabetes Unit, Massachusetts General Hospital, Boston, MA, USA.; Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA.; Department of Medicine, Harvard Medical School, Boston, MA, USA., Florez JC; Diabetes Unit, Massachusetts General Hospital, Boston, MA, USA.; Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA.; Department of Medicine, Harvard Medical School, Boston, MA, USA., Gaulton K; Department of Pediatrics, University of California San Diego, San Diego, CA, USA., Manning AK; Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Clinical and Translational Epidemiology Unit, Massachusetts General Hospital, Boston, MA, USA.; Department of Medicine, Harvard Medical School, Boston, MA, USA., Udler MS; Diabetes Unit, Massachusetts General Hospital, Boston, MA, USA. mudler@mgh.harvard.edu.; Broad Institute of MIT and Harvard, Cambridge, MA, USA. mudler@mgh.harvard.edu.; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA. mudler@mgh.harvard.edu.; Department of Medicine, Harvard Medical School, Boston, MA, USA. mudler@mgh.harvard.edu.
Publikováno v:
Diabetologia [Diabetologia] 2023 Mar; Vol. 66 (3), pp. 495-507. Date of Electronic Publication: 2022 Dec 20.
Autor:
Mejhert N; Department of Molecular Metabolism, Harvard T.H. Chan School of Public Health, Boston, MA 02115, USA; Department of Cell Biology, Harvard Medical School, Boston, MA 02115, USA; Department of Medicine (H7), Karolinska Institutet, Huddinge, 141 86 Stockholm, Sweden., Gabriel KR; Department of Molecular Metabolism, Harvard T.H. Chan School of Public Health, Boston, MA 02115, USA; Department of Cell Biology, Harvard Medical School, Boston, MA 02115, USA; Howard Hughes Medical Institute, Boston, MA 02115, USA., Frendo-Cumbo S; Department of Medicine (H7), Karolinska Institutet, Huddinge, 141 86 Stockholm, Sweden., Krahmer N; Institute for Diabetes and Obesity, Helmholtz Zentrum München, 85764 Neuherberg, Germany; German Center for Diabetes Research, Neuherberg, Germany., Song J; Department of Molecular Metabolism, Harvard T.H. Chan School of Public Health, Boston, MA 02115, USA; Department of Cell Biology, Harvard Medical School, Boston, MA 02115, USA., Kuruvilla L; Primary Pharmacology Group, Discovery Sciences, Pfizer Inc., Groton, CT 06340, USA., Chitraju C; Department of Molecular Metabolism, Harvard T.H. Chan School of Public Health, Boston, MA 02115, USA; Department of Cell Biology, Harvard Medical School, Boston, MA 02115, USA., Boland S; Department of Molecular Metabolism, Harvard T.H. Chan School of Public Health, Boston, MA 02115, USA; Department of Cell Biology, Harvard Medical School, Boston, MA 02115, USA., Jang DK; Program in Medical and Population Genetics, Broad Institute of Harvard and MIT, Cambridge, MA 02142, USA., von Grotthuss M; Program in Medical and Population Genetics, Broad Institute of Harvard and MIT, Cambridge, MA 02142, USA., Costanzo MC; Program in Medical and Population Genetics, Broad Institute of Harvard and MIT, Cambridge, MA 02142, USA., Rydén M; Department of Medicine (H7), Karolinska Institutet, Huddinge, 141 86 Stockholm, Sweden., Olzmann JA; Department of Molecular and Cell Biology, University of California Berkeley, Berkeley, CA 94720, USA; Department of Nutritional Sciences and Toxicology, University of California Berkeley, Berkeley, CA 94720, USA; Miller Institute for Basic Research in Science, University of California Berkeley, Berkeley, CA 94720, USA; Chan Zuckerberg Biohub, San Francisco, CA 94158, USA., Flannick J; Program in Medical and Population Genetics, Broad Institute of Harvard and MIT, Cambridge, MA 02142, USA; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA 02115, USA; Department of Pediatrics, Harvard Medical School, Boston, MA 02115, USA., Burtt NP; Program in Medical and Population Genetics, Broad Institute of Harvard and MIT, Cambridge, MA 02142, USA., Farese RV Jr; Department of Molecular Metabolism, Harvard T.H. Chan School of Public Health, Boston, MA 02115, USA; Department of Cell Biology, Harvard Medical School, Boston, MA 02115, USA; Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA; Center on the Causes and Prevention of Cardiovascular Disease (CAP-CVD), Harvard T.H. Chan School of Public Health, Boston, MA 02115, USA. Electronic address: robert@hsph.harvard.edu., Walther TC; Department of Molecular Metabolism, Harvard T.H. Chan School of Public Health, Boston, MA 02115, USA; Department of Cell Biology, Harvard Medical School, Boston, MA 02115, USA; Howard Hughes Medical Institute, Boston, MA 02115, USA; Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA; Center on the Causes and Prevention of Cardiovascular Disease (CAP-CVD), Harvard T.H. Chan School of Public Health, Boston, MA 02115, USA. Electronic address: twalther@hsph.harvard.edu.
Publikováno v:
Developmental cell [Dev Cell] 2022 Feb 07; Vol. 57 (3), pp. 387-397.e4.
Autor:
Rusu V, Hoch E, Mercader JM, Tenen DE, Gymrek M, Hartigan CR, DeRan M, von Grotthuss M, Fontanillas P, Spooner A, Guzman G, Deik AA, Pierce KA, Dennis C, Clish CB, Carr SA, Wagner BK, Schenone M, Ng MCY, Chen BH, Consortium M, Consortium STD, Centeno-Cruz F, Zerrweck C, Orozco L, Altshuler DM, Schreiber SL, Florez JC, Jacobs SBR, Lander ES
Publikováno v:
Cell, vol 170, iss 1
Type 2 diabetes (T2D) affects Latinos at twice therateseen in populations of European descent. Werecently identified a risk haplotype spanning SLC16A11 that explains ∼20% of the increased T2D prevalence in Mexico. Here, through genetic fine-mapping
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8d5e8412362e4ff7953a43997cb22f1f
https://escholarship.org/uc/item/0931b8s4
https://escholarship.org/uc/item/0931b8s4
Autor:
Orbaum-Harel, Odelia1,2 (AUTHOR) del.orbaum@gmail.com, Sarid, Ronit1,2 (AUTHOR) saridr@biu.ac.il
Publikováno v:
International Journal of Molecular Sciences. Oct2024, Vol. 25 Issue 20, p11268. 17p.
Autor:
Schaeffer, Stephen W1 (AUTHOR) sws4@psu.edu, Richards, Stephen2 (AUTHOR), Fuller, Zachary L3 (AUTHOR)
Publikováno v:
G3: Genes | Genomes | Genetics. Oct2024, Vol. 14 Issue 10, p1-16. 16p.
Publikováno v:
Chinese Journal of Diabetes Mellitus. 2024, Vol. 16 Issue 10, p1141-1146. 6p.
Autor:
Delaneau O., Marchini J., McVeanh G.A., Donnelly P., Lunter G., Marchini J.L., Myers, S., Gupta-Hinch, A., Iqbal, Z., Mathieson I., Rimmer, A., Xifara, D.K., Kerasidou, A., Churchhouse, C., Altshuler, D.M., Gabriel, S.B., Lander, E.S., Gupta, N., Daly, M.J., DePristo, M.A., Banks, E., Bhatia G., Carneiro, M.O., Del Angel G., Genovese G., Handsaker, R.E., Hartl, C., McCarroll, S.A., Nemesh J.C., Poplin, R.E., Schaffner, S.F., Shakir, K., Sabeti P.C., Grossman, S.R., Tabrizi, S., Tariyal, R., Li H., Reich, D., Durbin, R.M., Hurles, M.E., Balasubramaniam, S., Burton J., Danecek P., Keane, T.M., Kolb-Kokocinski, A., McCarthy, S., Stalker J., Quail, M., Ayub Q., Chen, Y., Coffey, A.J., Colonna V., Huang, N., Jostins L., Scally, A., Walter, K., Xue, Y., Zhang, Y., Blackburne, B., Lindsay, S.J., Ning, Z., Frankish, A., Harrow J., Chris, T.-S., Abecasis G.R., Kang H.M., Anderson P., Blackwell, T., Busonero F., Fuchsberger, C., Jun G., Maschio, A., Porcu, E., Sidore, C., Tan, A., Trost, M.K., Bentley, D.R., Grocock, R., Humphray, S., James, T., Kingsbury, Z., Bauer, M., Cheetham, R.K., Cox, T., Eberle, M., Murray L., Shaw, R., Chakravarti, A., Clark, A.G., Keinan, A., Rodriguez-Flores J.L., De LaVega F.M., Degenhardt J., Eichler, E.E., Flicek P., Clarke L., Leinonen, R., Smith, R.E., Zheng-Bradley X., Beal, K., Cunningham F., Herrero J., McLaren W.M., Ritchie G.R.S., Barker J., Kelman G., Kulesha, E., Radhakrishnan, R., Roa, A., Smirnov, D., Streeter I., Toneva I., Gibbs, R.A., Dinh H., Kovar, C., Lee, S., Lewis L., Muzny, D., Reid J., Wang, M., Yu F., Bainbridge, M., Challis, D., Evani, U.S., Lu J., Nagaswamy, U., Sabo, A., Wang, Y., Yu J., Fowler G., Hale W., Kalra, D., Green, E.D., Knoppers, B.M., Korbel J.O., Rausch, T., Sttz, A.M., Lee, C., Griffin L., Hsieh, C.-H., Mills, R.E., Von Grotthuss, M., Zhang, C., Shi X., Lehrach H., Sudbrak, R., Amstislavskiy V.S., Lienhard, M., Mertes F., Sultan, M., Timmermann, B., Yaspo, M.L., Herwig, S.R., Mardis, E.R., Wilson, R.K., Fulton L., Fulton, R., Weinstock G.M., Chinwalla, A., Ding L., Dooling, D., Koboldt, D.C., McLellan, M.D., Wallis J.W., Wendl, M.C., Zhang Q., Marth G.T., Garrison, E.P., Kural, D., Lee W.-P., Leong W.F., Ward, A.N., Wu J., Zhang, M., Nickerson, D.A., Alkan, C., Hormozdiari F., Ko, A., Sudmant P.H., Schmidt J.P., Davies, C.J., Gollub J., Webster, T., Wong, B., Zhan, Y., Sherry, S.T., Xiao, C., Church, D., Ananiev V., Belaia, Z., Beloslyudtsev, D., Bouk, N., Chen, C., Cohen, R., Cook, C., Garner J., Hefferon, T., Kimelman, M., Liu, C., Lopez J., Meric P., Ostapchuk, Y., Phan L., Ponomarov, S., Schneider V., Shekhtman, E., Sirotkin, K., Slotta, D., Zhang H., Wang J., Fang X., Guo X., Jian, M., Jiang H., Jin X., Li G., Li J., Li, Y., Liu X., Lu, Y., Ma X., Tai, S., Tang, M., Wang, B., Wang G., Wu H., Wu, R., Yin, Y., Zhang W., Zhao J., Zhao, M., Zheng X., Lachlan H., Fang L., Li Q., Li, Z., Lin H., Liu, B., Luo, R., Shao H., Xie, Y., Ye, C., Yu, C., Zheng H., Zhu H., Cai H., Cao H., Su, Y., Tian, Z., Yang H., Yang L., Zhu J., Cai, Z., Albrecht, M.W., Borodina, T.A., Auton, A., Yoon, S.C., Lihm J., Makarov V., Jin H., Kim W., Kim, K.C., Gottipati, S., Jones, D., Cooper, D.N., Ball, E.V., Stenson P.D., Barnes, B., Kahn, S., Ye, K., Batzer, M.A., Konkel, M.K., Walker J.A., MacArthur, D.G., Lek, M., Shriver, M.D., Bustamante, C.D., Gravel, S., Kenny, E.E., Kidd J.M., Lacroute P., Maples, B.K., Moreno-Estrada, A., Zakharia F., Henn, B., Sandoval, K., Byrnes J.K., Halperin, E., Baran, Y., Craig, D.W., Christoforides, A., Izatt, T., Kurdoglu, A.A., Sinari, S.A., Homer, N., Squire, K., Sebat J., Bafna V., Burchard, E.G., Hernandez, R.D., Gignoux, C.R., Haussler, D., Katzman, S.J., Kent W.J., Howie, B., Ruiz-Linares, A., Dermitzakis, E.T., Lappalainen, T., Devine, S.E., Maroo, A., Tallon L.J., Rosenfeld J.A., Michelson L.P., Angius, A., Cucca F., Sanna, S., Bigham, A., Jones, C., Reinier F., Lyons, R., Schlessinger, D., Awadalla P., Hodgkinson, A., Oleksyk, T.K., Martinez-Cruzado J.C., Fu, Y., Xiong, M., Jorde L., Witherspoon, D., Xing J., Browning, B.L., Hajirasouliha I., Chen, K., Albers, C.A., Gerstein, M.B., Abyzov, A., Chen J., Habegger L., Harmanci, A.O., Mu X.J., Sisu, C., Balasubramanian, S., Jin, M., Khurana, E., Clarke, D., Michaelson J.J., OSullivan, C., Barnes, K.C., Gharani, N., Toji L.H., Gerry, N., Kaye J.S., Kent, A., Mathias, R., Ossorio P.N., Parker, M., Rotimi, C.N., Royal, C.D., Tishkoff, S., Via, M., Bodmer W., Bedoya G., Yang G., You, C.J., Garcia-Montero, A., Orfao, A., Dutil J., Brooks L.D., Felsenfeld, A.L., McEwen J.E., Clemm, N.C., Guyer, M.S., Peterson J.L., Duncanson, A., Dunn, M., Peltonen L.
Publikováno v:
Nature communications
Nature Communications
Nature communications 5 (2014). doi:10.1038/ncomms4934
info:cnr-pdr/source/autori:Delaneau, Olivier; Marchini, Jonathan; McVeanh, Gil A.; Donnelly, Peter; Lunter, Gerton; Marchini, Jonathan L.; Myers, Simon R.; Gupta-Hinch, Anjali; Iqbal, Zamin; Mathieson, Iain; Rimmer, Andrew J.; Xifara, Dionysia K.; Kerasidou, Angeliki; Churchhouse, Claire; Altshuler, David M.; Gabriel, Stacey Bolk; Lander, Eric S.; Gupta, Namrata; Daly, Mark J.; DePristo, Mark A.; Banks, Eric; Bhatia, Gaurav; Carneiro, Mauricio O.; Del Angel, Guillermo; Genovese, Giulio; Handsaker, Robert E.; Hartl, Chris L.; McCarroll, Steven A.; Nemesh, James C.; Poplin, Ryan E.; Schaffner, Stephen F.; Shakir, Khalid; Sabeti, Pardis C.; Grossman, Sharon R.; Tabrizi, Shervin; Tariyal, Ridhi; Li, Heng; Reich, David E.; Durbin, Richard M.; Hurles, Matthew E.; Balasubramaniam, Senduran; Burton, John S.; Danecek, Petr; Keane, Thomas M.; Kolb-Kokocinski, Anja; McCarthy, Shane E.; Stalker, James W.; Quail, Michael A.; Ayub, Qasim; Chen, Yuan; Coffey, Alison J.; Colonna, Vincenza; Huang, Ni; Jostins, Luke; Scally, Aylwyn; Walter, Klaudia K Ho; Xue, Yali; Zhang, Yujun; Blackburne, Benjamin P.; Lindsay, Sarah J.; Ning, Zemin; Frankish, Adam G.; Harrow, Jennifer L.; Chris, Tyler S.; Abeçasis, Gonçalo R.; Kang, Hyunmin; Anderson, Paul C B; Blackwell, Thomas W.; Busonero, Fabio; Fuchsberger, Christian; Jun, Goo; Maschio, Andrea; Porcu, Eleonora; Sidore, Carlo; Tan, Adrian; Trost, Mary Kate; Bentley, David R.; Grocock, Russell James; Humphray, Sean J.; James, Terena; Kingsbury, Zoya; Bauer, Markus J.; Cheetham, R. Keira; Cox, Tony V.; Eberle, Michael A.; Murray, Lisa J.; Shaw, Richard J.; Chakravarti, Aravinda H.; Clark, Andrew Godfrey B; Keinan, Alon; Rodríguez-Flores, Juan L.; De LaVega, Francisco M.; Degenhardt, Jeremiah D.; Eichler, Evan E.; Flicek, Paul; Clarke, Laura A.; Leinonen, Rasko; Smith, Richard E.; Zheng-Bradley, Xiangqun; Beal, Kathryn F.; Cunningham, Fiona; Herrero, Javier; McLaren, William M.; Ritchie, Graham R S; Barker, Jonathan Nn W N; Kelman, Gavin; Kulesha, Eugene; Radhakrishnan, Rajesh; Roa, Asier; Smirnov, Dmitri S.; Streeter, Ian; Toneva, Iliana; Gibbs, Richard A L; Dinh, Huyen H.; Ková?, Christie L.; Lee, Sandy; Lewis, Lora R.; Muzny, Donna Marie; Reid, Jeffrey G.; Wang, Min; Yu, Fuli; Bainbridge, Matthew N.; Challis, Daniel E.; Evani, Uday S.; Lu, James; Nagaswamy, Uma; Sabo, Aniko M.; Wang, Yi; Yu, Jin; Fowler, Gerald R.; Hale, Walker; Kalra, Divya; Green, Eric D.; Knoppers, Bartha Maria; Korbel, Jan O.; Rausch, Tobias; Sttz, Adrian M.; Lee, Charles; Griffin, Lauren; Hsieh, Chihheng; Mills, Ryan E.; Von Grotthuss, Marcin; Zhang, Chengsheng; Shi, Xinghua; Lehrach, Hans R.; Sudbrak, Ralf; Amstislavskiy, Vyacheslav S.; Lienhard, Matthias; Mertes, Florian; Sultan, Marc; Timmermann, Bernd; Yaspo, Marie Laure; Herwig, Sudbrak Ralf; Mardis, Elaine; Wilson, Richard K.; Fulton, Lucinda L.; Fulton, Robert S.; Weinstock, George M.; Chinwalla, Asif T.; Ding, Li; Dooling, David J.; Koboldt, Daniel C.; McLellan, Michael D.; Wallis, John W.; Wendl, Michael C.; Zhang, Qunyuan; Marth, Gábor T.; Garrison, Erik P.; Kural, Deniz; Lee, Wanping; Leong, Wenfung; Ward, Alistair N.; Wu, Jiantao; Zhang, Mengyao; Nickerson, Deborah A A.; Alkan, Can; Hormozdiari, Fereydoun; Ko, Arthur; Sudmant, Peter H.; Schmidt, Jeanette P.; Davies, Christopher J.; Gollub, Jeremy; Webster, Teresa A.; Wong, Brant; Zhan, Yiping; Sherry, Stephen T.; Xiao, Chunlin; Church, Deanna M.; Ananiev, Victor; Belaia, Zinaida; Beloslyudtsev, Dimitriy; Bouk, Nathan; Chen, Chao; Cohen, Robert F.; Cook, Charles; Garner, John R.; Hefferon, Timothy W.; Kimelman, Mikhail; Liu, Chunlei; Lopez, John R.; Meric, Peter A.; Ostapchuk, Yu L.; Phan, Lon; Ponomarov, Sergiy; Schneider, Valerie A.; Shekhtman, Eugene M.; Sirotkin, Karl M.; Slotta, Douglas J.; Zhang, Hua; Wang, Jun; Fang, Xiaodong; Guo, Xiaosen; Jian, Min; Jiang, Hui; Jin, Xin; Li, Guoqing; Li, Jingxiang; Li, Yingrui; Liu, Xiao; Lu, Yao; Ma, Xuedi; Tai, Shuaishuai; Tang, Meifang; Wang, Bo; Wang, Guangbiao; Wu, Honglong; Wu, Renhua; Yin, Ye; Zhang, Wenwei; Zhao, Jiao; Zhao, Meiru; Zheng, Xiaole; Lachlan, Hans; Fang, Lin; Li, Qibin; Li, Zhenyu; Lin, Haoxiang; Liu, Binghang; Luo, Ruibang; Shao, Haojing; Wang, Bingqiang; Xie, Yinlong; Ye, Chen; Yu, Chang; Zheng, Hancheng; Zhu, Hongmei; Cai, Hongyu; Cao, Hongzhi; Su, Yeyang; Tian, Zhongming; Yang, Huanming; Yang, Ling; Zhu, Jiayong; Cai, Zhiming; Wang, Jian; Albrecht, Marcus W.; Borodina, Tatiana A.; Auton, Adam; Yoon, Seungtaichris; Lihm, Jayon; Makarov, Vladimir; Jin, Hanjun; Kim, Wook; Kim, Kicheol; Gottipati, Srikanth; Jones, Danielle; Cooper, David N David N; Ball, Edward V.; Stenson, Peter D.; Barnes, Bret; Kahn, Scott D.; Ye, Kai; Batzer, Mark A.; Konkel, Miriam K.; Walker, Jerilyn A.; Macarthur, Daniel G.; Lek, Monkol; Shriver, Mark D.; Bustamante, Carlos D.; Gravel, Simon Pierre; Kenny, Eimear E.; Kidd, Jeffrey M.; Lacroute, Phil; Maples, Brian K.; Moreno-Estrada, Andrés; Zakharia, Fouad; Henn, Brenna M.; Sandoval, Karla; Byrnes, Jake K.; Halperin, Eran; Baran, Yael; Craig, David W.; Christoforides, Alexis; Izatt, Tyler; Kurdoglu, Ahmet A.; Sinari, Shripad A.; Homer, Nils; Squire, Kevin; Sebat, Jonathan L.; Bafna, Vineet K.; Ye, Kenny; Burchard, Esteban González; Hernandez, Ryan D.; Gignoux, Christopher R.; Haussler, David H.; Katzman, Sol J.; Kent, William James; Howie, Bryan N.; Ruiz-Linarès, Andrés; Dermitzakis, Emmanouil T T.; Lappalainen, Tuuli; Devine, Scott E.; Liu, Xinyue; Maroo, Ankit; Tallon, Luke J.; Rosenfeld, Jeffrey A.; Michelson, Leslie P.; Angius, Andrea G.; Cucca, Francesco; Sanna, Serena; Bigham, Abigail W.; Jones, Chris G.; Reinier, Frédéric; Li, Yun; Lyons, Robert H.; Schlessinger, David; Awadalla, Philip; Hodgkinson, Alan; Oleksyk, Taras K.; Martínez-Cruzado, Juan Carlos; Fu, Yunxin; Liu, Xiaoming; Xiong, Momiao; Jorde, Lynn B.; Witherspoon, David J.; Xing, Jinchuan; Browning, Brian L.; Hajirasouliha, Iman; Chen, Ken; Albers, Cornelis A.; Gerstein, Mark B.; Abyzov, Alexej; Chen, Jieming; Fu, Yao; Habegger, Lukas; Harmanci, Arif Ozgun; Mu, Xinmengjasmine; Sisu, Cristina; Balasubramanian, Suganthi; Jin, Mike; Khurana, Ekta; Clarke, Declan; Michaelson, Jacob J.; OSullivan, Chris; Barnes, Kathleen Carole; Gharani, Neda; Toji, Lorraine H.; Gerry, Norman P.; Kaye, Jane S.; Kent, Alastair D.; Mathias, Rasika Ann; Ossorio, Pilar N.; Parker, Michael J.; Rotimi, Charles N.; Royal, Charmaine D M; Tishkoff, Sarah A.; Vía, Marc; Bodmer, Walter F.; Bedoya, Gabriel De Jesús; Yang, Gao; You, Chujia; García-Montero, Andrés Celestino; Orfao, Alberto; Dutil, Julie; Brooks, Lisa D.; Felsenfeld, Adam L.; McEwen, Jean E.; Clemm, Nicholas C.; Guyer, Mark S.; Peterson, Jane L.; Duncanson, Audrey; Dunn, Michael G.; Peltonen, Leena Johanna/titolo:Integrating sequence and array data to create an improved 1000 Genomes Project haplotype reference panel/doi:10.1038%2Fncomms4934/rivista:Nature communications/anno:2014/pagina_da:/pagina_a:/intervallo_pagine:/volume:5
Nature Communications
Nature communications 5 (2014). doi:10.1038/ncomms4934
info:cnr-pdr/source/autori:Delaneau, Olivier; Marchini, Jonathan; McVeanh, Gil A.; Donnelly, Peter; Lunter, Gerton; Marchini, Jonathan L.; Myers, Simon R.; Gupta-Hinch, Anjali; Iqbal, Zamin; Mathieson, Iain; Rimmer, Andrew J.; Xifara, Dionysia K.; Kerasidou, Angeliki; Churchhouse, Claire; Altshuler, David M.; Gabriel, Stacey Bolk; Lander, Eric S.; Gupta, Namrata; Daly, Mark J.; DePristo, Mark A.; Banks, Eric; Bhatia, Gaurav; Carneiro, Mauricio O.; Del Angel, Guillermo; Genovese, Giulio; Handsaker, Robert E.; Hartl, Chris L.; McCarroll, Steven A.; Nemesh, James C.; Poplin, Ryan E.; Schaffner, Stephen F.; Shakir, Khalid; Sabeti, Pardis C.; Grossman, Sharon R.; Tabrizi, Shervin; Tariyal, Ridhi; Li, Heng; Reich, David E.; Durbin, Richard M.; Hurles, Matthew E.; Balasubramaniam, Senduran; Burton, John S.; Danecek, Petr; Keane, Thomas M.; Kolb-Kokocinski, Anja; McCarthy, Shane E.; Stalker, James W.; Quail, Michael A.; Ayub, Qasim; Chen, Yuan; Coffey, Alison J.; Colonna, Vincenza; Huang, Ni; Jostins, Luke; Scally, Aylwyn; Walter, Klaudia K Ho; Xue, Yali; Zhang, Yujun; Blackburne, Benjamin P.; Lindsay, Sarah J.; Ning, Zemin; Frankish, Adam G.; Harrow, Jennifer L.; Chris, Tyler S.; Abeçasis, Gonçalo R.; Kang, Hyunmin; Anderson, Paul C B; Blackwell, Thomas W.; Busonero, Fabio; Fuchsberger, Christian; Jun, Goo; Maschio, Andrea; Porcu, Eleonora; Sidore, Carlo; Tan, Adrian; Trost, Mary Kate; Bentley, David R.; Grocock, Russell James; Humphray, Sean J.; James, Terena; Kingsbury, Zoya; Bauer, Markus J.; Cheetham, R. Keira; Cox, Tony V.; Eberle, Michael A.; Murray, Lisa J.; Shaw, Richard J.; Chakravarti, Aravinda H.; Clark, Andrew Godfrey B; Keinan, Alon; Rodríguez-Flores, Juan L.; De LaVega, Francisco M.; Degenhardt, Jeremiah D.; Eichler, Evan E.; Flicek, Paul; Clarke, Laura A.; Leinonen, Rasko; Smith, Richard E.; Zheng-Bradley, Xiangqun; Beal, Kathryn F.; Cunningham, Fiona; Herrero, Javier; McLaren, William M.; Ritchie, Graham R S; Barker, Jonathan Nn W N; Kelman, Gavin; Kulesha, Eugene; Radhakrishnan, Rajesh; Roa, Asier; Smirnov, Dmitri S.; Streeter, Ian; Toneva, Iliana; Gibbs, Richard A L; Dinh, Huyen H.; Ková?, Christie L.; Lee, Sandy; Lewis, Lora R.; Muzny, Donna Marie; Reid, Jeffrey G.; Wang, Min; Yu, Fuli; Bainbridge, Matthew N.; Challis, Daniel E.; Evani, Uday S.; Lu, James; Nagaswamy, Uma; Sabo, Aniko M.; Wang, Yi; Yu, Jin; Fowler, Gerald R.; Hale, Walker; Kalra, Divya; Green, Eric D.; Knoppers, Bartha Maria; Korbel, Jan O.; Rausch, Tobias; Sttz, Adrian M.; Lee, Charles; Griffin, Lauren; Hsieh, Chihheng; Mills, Ryan E.; Von Grotthuss, Marcin; Zhang, Chengsheng; Shi, Xinghua; Lehrach, Hans R.; Sudbrak, Ralf; Amstislavskiy, Vyacheslav S.; Lienhard, Matthias; Mertes, Florian; Sultan, Marc; Timmermann, Bernd; Yaspo, Marie Laure; Herwig, Sudbrak Ralf; Mardis, Elaine; Wilson, Richard K.; Fulton, Lucinda L.; Fulton, Robert S.; Weinstock, George M.; Chinwalla, Asif T.; Ding, Li; Dooling, David J.; Koboldt, Daniel C.; McLellan, Michael D.; Wallis, John W.; Wendl, Michael C.; Zhang, Qunyuan; Marth, Gábor T.; Garrison, Erik P.; Kural, Deniz; Lee, Wanping; Leong, Wenfung; Ward, Alistair N.; Wu, Jiantao; Zhang, Mengyao; Nickerson, Deborah A A.; Alkan, Can; Hormozdiari, Fereydoun; Ko, Arthur; Sudmant, Peter H.; Schmidt, Jeanette P.; Davies, Christopher J.; Gollub, Jeremy; Webster, Teresa A.; Wong, Brant; Zhan, Yiping; Sherry, Stephen T.; Xiao, Chunlin; Church, Deanna M.; Ananiev, Victor; Belaia, Zinaida; Beloslyudtsev, Dimitriy; Bouk, Nathan; Chen, Chao; Cohen, Robert F.; Cook, Charles; Garner, John R.; Hefferon, Timothy W.; Kimelman, Mikhail; Liu, Chunlei; Lopez, John R.; Meric, Peter A.; Ostapchuk, Yu L.; Phan, Lon; Ponomarov, Sergiy; Schneider, Valerie A.; Shekhtman, Eugene M.; Sirotkin, Karl M.; Slotta, Douglas J.; Zhang, Hua; Wang, Jun; Fang, Xiaodong; Guo, Xiaosen; Jian, Min; Jiang, Hui; Jin, Xin; Li, Guoqing; Li, Jingxiang; Li, Yingrui; Liu, Xiao; Lu, Yao; Ma, Xuedi; Tai, Shuaishuai; Tang, Meifang; Wang, Bo; Wang, Guangbiao; Wu, Honglong; Wu, Renhua; Yin, Ye; Zhang, Wenwei; Zhao, Jiao; Zhao, Meiru; Zheng, Xiaole; Lachlan, Hans; Fang, Lin; Li, Qibin; Li, Zhenyu; Lin, Haoxiang; Liu, Binghang; Luo, Ruibang; Shao, Haojing; Wang, Bingqiang; Xie, Yinlong; Ye, Chen; Yu, Chang; Zheng, Hancheng; Zhu, Hongmei; Cai, Hongyu; Cao, Hongzhi; Su, Yeyang; Tian, Zhongming; Yang, Huanming; Yang, Ling; Zhu, Jiayong; Cai, Zhiming; Wang, Jian; Albrecht, Marcus W.; Borodina, Tatiana A.; Auton, Adam; Yoon, Seungtaichris; Lihm, Jayon; Makarov, Vladimir; Jin, Hanjun; Kim, Wook; Kim, Kicheol; Gottipati, Srikanth; Jones, Danielle; Cooper, David N David N; Ball, Edward V.; Stenson, Peter D.; Barnes, Bret; Kahn, Scott D.; Ye, Kai; Batzer, Mark A.; Konkel, Miriam K.; Walker, Jerilyn A.; Macarthur, Daniel G.; Lek, Monkol; Shriver, Mark D.; Bustamante, Carlos D.; Gravel, Simon Pierre; Kenny, Eimear E.; Kidd, Jeffrey M.; Lacroute, Phil; Maples, Brian K.; Moreno-Estrada, Andrés; Zakharia, Fouad; Henn, Brenna M.; Sandoval, Karla; Byrnes, Jake K.; Halperin, Eran; Baran, Yael; Craig, David W.; Christoforides, Alexis; Izatt, Tyler; Kurdoglu, Ahmet A.; Sinari, Shripad A.; Homer, Nils; Squire, Kevin; Sebat, Jonathan L.; Bafna, Vineet K.; Ye, Kenny; Burchard, Esteban González; Hernandez, Ryan D.; Gignoux, Christopher R.; Haussler, David H.; Katzman, Sol J.; Kent, William James; Howie, Bryan N.; Ruiz-Linarès, Andrés; Dermitzakis, Emmanouil T T.; Lappalainen, Tuuli; Devine, Scott E.; Liu, Xinyue; Maroo, Ankit; Tallon, Luke J.; Rosenfeld, Jeffrey A.; Michelson, Leslie P.; Angius, Andrea G.; Cucca, Francesco; Sanna, Serena; Bigham, Abigail W.; Jones, Chris G.; Reinier, Frédéric; Li, Yun; Lyons, Robert H.; Schlessinger, David; Awadalla, Philip; Hodgkinson, Alan; Oleksyk, Taras K.; Martínez-Cruzado, Juan Carlos; Fu, Yunxin; Liu, Xiaoming; Xiong, Momiao; Jorde, Lynn B.; Witherspoon, David J.; Xing, Jinchuan; Browning, Brian L.; Hajirasouliha, Iman; Chen, Ken; Albers, Cornelis A.; Gerstein, Mark B.; Abyzov, Alexej; Chen, Jieming; Fu, Yao; Habegger, Lukas; Harmanci, Arif Ozgun; Mu, Xinmengjasmine; Sisu, Cristina; Balasubramanian, Suganthi; Jin, Mike; Khurana, Ekta; Clarke, Declan; Michaelson, Jacob J.; OSullivan, Chris; Barnes, Kathleen Carole; Gharani, Neda; Toji, Lorraine H.; Gerry, Norman P.; Kaye, Jane S.; Kent, Alastair D.; Mathias, Rasika Ann; Ossorio, Pilar N.; Parker, Michael J.; Rotimi, Charles N.; Royal, Charmaine D M; Tishkoff, Sarah A.; Vía, Marc; Bodmer, Walter F.; Bedoya, Gabriel De Jesús; Yang, Gao; You, Chujia; García-Montero, Andrés Celestino; Orfao, Alberto; Dutil, Julie; Brooks, Lisa D.; Felsenfeld, Adam L.; McEwen, Jean E.; Clemm, Nicholas C.; Guyer, Mark S.; Peterson, Jane L.; Duncanson, Audrey; Dunn, Michael G.; Peltonen, Leena Johanna/titolo:Integrating sequence and array data to create an improved 1000 Genomes Project haplotype reference panel/doi:10.1038%2Fncomms4934/rivista:Nature communications/anno:2014/pagina_da:/pagina_a:/intervallo_pagine:/volume:5
A major use of the 1000 Genomes Project (1000GP) data is genotype imputation in genome-wide association studies (GWAS). Here we develop a method to estimate haplotypes from low-coverage sequencing data that can take advantage of single-nucleotide pol
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4e27cd0d1ed4de04db34bcfb769bb534
https://serval.unil.ch/resource/serval:BIB_FAB25C17CFF9.P001/REF.pdf
https://serval.unil.ch/resource/serval:BIB_FAB25C17CFF9.P001/REF.pdf
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