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Nature, ISSN 0028-0836, 2016, Volume 536, Issue 7616, pp. 285 - 291
Large-scale reference data sets of human genetic variation are critical for the medical and functional interpretation of DNA sequence changes. Here we describe... 
HUMAN-DISEASE | EVOLUTION | MULTIDISCIPLINARY SCIENCES | MUTATION | GUIDELINES | FRAMEWORK | SEQUENCE VARIANTS | NETWORKS | DISCOVERY | HUMAN-POPULATION HISTORY | Genetic aspects | Research | Man | Human beings | Genetic variation | Analysis | Datasets | Proteins | Disease | Genes | Principal components analysis | Genetics | Genomes | Data bases | Index Medicus
Journal Article
BMC Proceedings, 09/2018, Volume 12
Journal Article
JACC (Journal of the American College of Cardiology), ISSN 0735-1097, 2016, Volume 67, Issue 22, pp. 2578 - 2589
Abstract Background Approximately 7% of American adults have severe hypercholesterolemia (untreated low-density lipoprotein [LDL] cholesterol ≥190 mg/dl),... 
Cardiovascular | Internal Medicine | coronary artery disease | gene sequencing | genetics | low-density lipoprotein cholesterol | POPULATION | CARDIAC & CARDIOVASCULAR SYSTEMS | METAANALYSIS | MYOCARDIAL-INFARCTION | RANDOMIZED-TRIALS | AUTOSOMAL-DOMINANT HYPERCHOLESTEROLEMIA | RISK | MUTATION DETECTION RATE | CORONARY-HEART-DISEASE | ASSOCIATION | PARTICIPANTS | Receptors, LDL - genetics | Humans | Middle Aged | Hyperlipoproteinemia Type II - diagnosis | Male | Proprotein Convertase 9 - genetics | Apolipoprotein B-100 - genetics | Case-Control Studies | Genetic Variation | Cholesterol, LDL - blood | Female | Heterozygote | Coronary Artery Disease - epidemiology | Sequence Analysis | Cohort Studies | Hypercholesterolemia - epidemiology | Hyperlipoproteinemia Type II - genetics | Medical colleges | Care and treatment | Low density lipoproteins | Genes | Coronary heart disease | Population genetics | Epidemiology | Blood | Hypercholesterolemia | Analysis and chemistry | Atherosclerosis | Genetic research | Genetic aspects | Diagnosis | Research institutes | Cardiology | Trans fatty acids | Heart attacks | Cardiovascular disease | Lipids | Apolipoproteins | Low density lipoprotein | Cholesterol | Proteins | Studies | Confidence intervals | Consortia | Algorithms | Coronary vessels | Population | Mutation | Deoxyribonucleic acid--DNA | Index Medicus | Abridged Index Medicus
Journal Article
by Crosby, Jacy and Peloso, Gina M and Auer, Paul L and Crosslin, David R and Stitziel, Nathan O and Lange, Leslie A and Lu, Yingchang and Tang, Zheng-Zheng and Zhang, He and Hindy, George and Masca, Nicholas and Stirrups, Kathleen and Kanoni, Stavroula and Do, Ron and Jun, Goo and Hu, Youna and Kang, Hyun Min and Xue, Chenyi and Goel, Anuj and Farrall, Martin and Duga, Stefano and Merlini, Pier Angelica and Asselta, Rosanna and Girelli, Domenico and Olivieri, Oliviero and Martinelli, Nicola and Yin, Wu and Reilly, Dermot and Speliotes, Elizabeth and Fox, Caroline S and Hveem, Kristian and Holmen, Oddgeir L and Nikpay, Majid and Farlow, Deborah N and Assimes, Themistocles L and Franceschini, Nora and Robinson, Jennifer and North, Kari E and Martin, Lisa W and DePristo, Mark and Gupta, Namrata and Escher, Stefan A and Jansson, Jan-Håkan and Van Zuydam, Natalie and Palmer, Colin N. A and Wareham, Nicholas and Koch, Werner and Meitinger, Thomas and Peters, Annette and Lieb, Wolfgang and Erbel, Raimund and Konig, Inke R and Kruppa, Jochen and Degenhardt, Franziska and Gottesman, Omri and Bottinger, Erwin P and O'Donnell, Christopher J and Psaty, Bruce M and Ballantyne, Christie M and Abecasis, Goncalo and Ordovas, Jose M and Melander, Olle and Watkins, Hugh and Orho-Melander, Marju and Ardissino, Diego and Loos, Ruth J. F and McPherson, Ruth and Willer, Cristen J and Erdmann, Jeanette and Hall, Alistair S and Samani, Nilesh J and Deloukas, Panos and Schunkert, Heribert and Wilson, James G and Kooperberg, Charles and Rich, Stephen S and Tracy, Russell P and Lin, Dan-Yu and Altshuler, David and Gabriel, Stacey and Nickerson, Deborah A and Jarvik, Gail P and Cupples, L. Adrienne and Reiner, Alex P and Boerwinkle, Eric and Kathiresan, Sekar and The TG and HDL Working Group of the Exome Sequencing Project, National Heart, Lung, and Blood Institute and Natl Heart Lung Blood Inst and Exome Sequencing Project and TG and HDL Working Group of the Exome Sequencing Project, National Heart, Lung, and Blood Institute and Medicinska fakulteten and Institutionen för folkhälsa och klinisk medicin and Umeå universitet and Medicin
The New England Journal of Medicine, ISSN 0028-4793, 07/2014, Volume 371, Issue 1, pp. 22 - 31
Journal Article
by Voight, Benjamin F, PhD and Peloso, Gina M, PhD and Orho-Melander, Marju, PhD and Frikke-Schmidt, Ruth, DMSc and Barbalic, Maja, PhD and Jensen, Majken K, PhD and Hindy, George, MD and Hólm, Hilma, MD and Ding, Eric L, ScD and Johnson, Toby, PhD and Schunkert, Heribert, Prof and Samani, Nilesh J, Prof and Clarke, Robert, MD and Hopewell, Jemma C, PhD and Thompson, John F, Prof and Li, Mingyao, PhD and Thorleifsson, Gudmar, PhD and Newton-Cheh, Christopher, MD and Musunuru, Kiran, MD and Pirruccello, James P, BS and Saleheen, Danish, MBBS and Chen, Li, MSc and Stewart, Alexandre FR, PhD and Schillert, Arne, PhD and Thorsteinsdottir, Unnur, PhD and Thorgeirsson, Gudmundur, MD and Anand, Sonia, Prof and Engert, James C, PhD and Morgan, Thomas, MD and Spertus, John, Prof and Stoll, Monika, Prof and Berger, Klaus, Prof and Martinelli, Nicola, MD and Girelli, Domenico, Prof and McKeown, Pascal P, Prof and Patterson, Christopher C, PhD and Epstein, Stephen E, MD and Devaney, Joseph, PhD and Burnett, Mary-Susan, PhD and Mooser, Vincent, MD and Ripatti, Samuli, PhD and Surakka, Ida, BSci and Nieminen, Markku S, Prof and Sinisalo, Juha, MD and Lokki, Marja-Liisa, PhD and Perola, Markus, Prof and Havulinna, Aki, PhD and de Faire, Ulf, Prof and Gigante, Bruna, MD and Ingelsson, Erik, PhD and Zeller, Tanja, PhD and Wild, Philipp, MD and de Bakker, Paul I W, Prof and Klungel, Olaf H, PhD and Maitland-van der Zee, Anke-Hilse, PhD and Peters, Bas J M, PhD and de Boer, Anthonius, Prof and Grobbee, Diederick E, Prof and Kamphuisen, Pieter W, PhD and Deneer, Vera H M, PhD and Elbers, Clara C, PhD and Onland-Moret, N Charlotte, PhD and Hofker, Marten H, Prof and Wijmenga, Cisca, Prof and Verschuren, WM Monique, PhD and Boer, Jolanda MA, PhD and van der Schouw, Yvonne T, Prof and Rasheed, Asif and Frossard, Philippe and Demissie, Serkalem, PhD and Willer, Cristen, PhD and Do, Ron, PhD and Ordovas, Jose M, Prof and Abecasis, Gonçalo R, Prof and Boehnke, Michael, Prof and Mohlke, Karen L, PhD and Daly, Mark J, PhD and Guiducci, Candace, BS and Burtt, Noël P, BS and Surti, Aarti, BS and Gonzalez, Elena, BS and Purcell, Shaun, PhD and Gabriel, Stacey, PhD and Marrugat, Jaume, PhD and Peden, John, PhD and Erdmann, Jeanette, PhD and Diemert, Patrick, MD and Willenborg, Christina, MSc and König, Inke R, PhD and Fischer, Marcus, MD and Hengstenberg, Christian, MD and Ziegler, Andreas, PhD and Buysschaert, Ian, MD and Lambrechts, Diether, PhD and Van de Werf, Frans, Prof and Fox, Keith A, Prof and El Mokhtari, Nour Eddine, MD and Rubin, Diana, MD and Schrezenmeir, Jürgen, PhD and Schreiber, Stefan, Prof and ...
Lancet, The, ISSN 0140-6736, 08/2012, Volume 380, Issue 9841, pp. 572 - 580
Journal Article
Alzheimer's & Dementia: The Journal of the Alzheimer's Association, ISSN 1552-5260, 07/2018, Volume 14, Issue 7, pp. P711 - P711
Journal Article
by Do, Ron and Stitziel, Nathan O and Won, Hong-Hee and Jørgensen, Anders Berg and Duga, Stefano and Angelica Merlini, Pier and Kiezun, Adam and Farrall, Martin and Goel, Anuj and Zuk, Or and Guella, Illaria and Asselta, Rosanna and Lange, Leslie A and Peloso, Gina M and Auer, Paul L and Girelli, Domenico and Martinelli, Nicola and Farlow, Deborah N and DePristo, Mark A and Roberts, Robert and Stewart, Alexander F. R and Saleheen, Danish and Danesh, John and Epstein, Stephen E and Sivapalaratnam, Suthesh and Hovingh, G. Kees and Kastelein, John J and Samani, Nilesh J and Schunkert, Heribert and Erdmann, Jeanette and Shah, Svati H and Kraus, William E and Davies, Robert and Nikpay, Majid and Johansen, Christopher T and Wang, Jian and Hegele, Robert A and Hechter, Eliana and Marz, Winfried and Kleber, Marcus E and Huang, Jie and Johnson, Anew D and Li, Mingyao and Burke, Greg L and Gross, Myron and Liu, Yongmei and Assimes, Themistocles L and Heiss, Gerardo and Lange, Ethan M and Folsom, Aaron R and Taylor, Herman A and Olivieri, Oliviero and Hamsten, Anders and Clarke, Robert and Reilly, Dermot F and Yin, Wu and Rivas, Manuel A and Donnelly, Peter and Rossouw, Jacques E and Psaty, Bruce M and Herrington, David M and Wilson, James G and Rich, Stephen S and Bamshad, Michael J and Tracy, Russell P and Cupples, L. Aienne and Rader, Daniel J and Reilly, Muredach P and Spertus, John A and Cresci, Sharon and Hartiala, Jaana and Tang, W. H. Wilson and Hazen, Stanley L and Allayee, Hooman and Reiner, Alex P and Carlson, Christopher S and Kooperberg, Charles and Jackson, Rebecca D and Boerwinkle, Eric and Lander, Eric S and Schwartz, Stephen M and Siscovick, David S and McPherson, Ruth and Tybjaerg-Hansen, Anne and Abecasis, Goncalo R and Watkins, Hugh and Nickerson, Deborah A and Ardissino, Diego and Sunyaev, Shamil R and O'Donnell, Christopher J and Altshuler, David and Gabriel, Stacey and Kathiresan, Sekar and Gabriel, Stacey B and Altshuler, David M and Abecasis, Gonçalo R and Daly, Mark J and de Bakker, Paul I. W and Fennell, Tim and Garimella, Kiran and ... and NHLBI Exome Sequencing Project
Nature, ISSN 0028-0836, 2015, Volume 518, Issue 7537, pp. 102 - +
Journal Article
The New England Journal of Medicine, ISSN 0028-4793, 02/2013, Volume 368, Issue 6, pp. 503 - 512
Journal Article