@article {8515,
	title = {{Exome sequencing of 20,791 cases of type 2 diabetes and 24,440 controls},
	journal = {Nature},
	volume = {570},
	year = {2019},
	month = {06},
	pages = {71{\textendash}76},
	abstract = {Protein-coding genetic variants that strongly affect disease risk can yield relevant clues to disease pathogenesis. Here we report exome-sequencing analyses of 20,791 individuals with type 2 diabetes (T2D) and 24,440 non-diabetic control participants from 5 ancestries. We identify gene-level associations of rare variants (with minor allele frequencies of less than 0.5\%) in 4 genes at exome-wide significance, including a series of more than 30 SLC30A8 alleles that conveys protection against T2D, and in 12 gene sets, including those corresponding to T2D drug targets (P = 6.1 {\~A}{\textemdash} 10-3) and candidate genes from knockout mice (P = 5.2 {\~A}{\textemdash} 10-3). Within our study, the strongest T2D gene-level signals for rare variants explain at most 25\% of the heritability of the strongest common single-variant signals, and the gene-level effect sizes of the rare variants that we observed in established T2D drug targets will require 75,000-185,000 sequenced cases to achieve exome-wide significance. We propose a method to interpret these modest rare-variant associations and to incorporate these associations into future target or gene prioritization efforts.},
	author = {Flannick, J. and Mercader, J. M. and Fuchsberger, C. and Udler, M. S. and Mahajan, A. and Wessel, J. and Teslovich, T. M. and Caulkins, L. and Koesterer, R. and Barajas-Olmos, F. and Blackwell, T. W. and Boerwinkle, E. and Brody, J. A. and Centeno-Cruz, F. and Chen, L. and Chen, S. and Contreras-Cubas, C. and C?rdova, E. and Correa, A. and Cortes, M. and DeFronzo, R. A. and Dolan, L. and Drews, K. L. and Elliott, A. and Floyd, J. S. and Gabriel, S. and Garay-Sevilla, M. E. and Garc?a-Ortiz, H. and Gross, M. and Han, S. and Heard-Costa, N. L. and Jackson, A. U. and J?rgensen, M. E. and Kang, H. M. and Kelsey, M. and Kim, B. J. and Koistinen, H. A. and Kuusisto, J. and Leader, J. B. and Linneberg, A. and Liu, C. T. and Liu, J. and Lyssenko, V. and Manning, A. K. and Marcketta, A. and Malacara-Hernandez, J. M. and Mart?nez-Hern?ndez, A. and Matsuo, K. and Mayer-Davis, E. and Mendoza-Caamal, E. and Mohlke, K. L. and Morrison, A. C. and Ndungu, A. and Ng, M. C. Y. and O{\textquoteright}Dushlaine, C. and Payne, A. J. and Pihoker, C. and Post, W. S. and Preuss, M. and Psaty, B. M. and Vasan, R. S. and Rayner, N. W. and Reiner, A. P. and Revilla-Monsalve, C. and Robertson, N. R. and Santoro, N. and Schurmann, C. and So, W. Y. and Sober?n, X. and Stringham, H. M. and Strom, T. M. and Tam, C. H. T. and Thameem, F. and Tomlinson, B. and Torres, J. M. and Tracy, R. P. and van Dam, R. M. and Vujkovic, M. and Wang, S. and Welch, R. P. and Witte, D. R. and Wong, T. Y. and Atzmon, G. and Barzilai, N. and Blangero, J. and Bonnycastle, L. L. and Bowden, D. W. and Chambers, J. C. and Chan, E. and Cheng, C. Y. and Cho, Y. S. and Collins, F. S. and de Vries, P. S. and Duggirala, R. and Glaser, B. and Gonzalez, C. and Gonzalez, M. E. and Groop, L. and Kooner, J. S. and Kwak, S. H. and Laakso, M. and Lehman, D. M. and Nilsson, P. and Spector, T. D. and Tai, E. S. and Tuomi, T. and Tuomilehto, J. and Wilson, J. G. and Aguilar-Salinas, C. A. and Bottinger, E. and Burke, B. and Carey, D. J. and Chan, J. C. N. and Dupuis, J. and Frossard, P. and Heckbert, S. R. and Hwang, M. Y. and Kim, Y. J. and Kirchner, H. L. and Lee, J. Y. and Lee, J. and Loos, R. J. F. and Ma, R. C. W. and Morris, A. D. and O{\textquoteright}Donnell, C. J. and Palmer, C. N. A. and Pankow, J. and Park, K. S. and Rasheed, A. and Saleheen, D. and Sim, X. and Small, K. S. and Teo, Y. Y. and Haiman, C. and Hanis, C. L. and Henderson, B. E. and Orozco, L. and Tusi?-Luna, T. and Dewey, F. E. and Baras, A. and Gieger, C. and Meitinger, T. and Strauch, K. and Lange, L. and Grarup, N. and Hansen, T. and Pedersen, O. and Zeitler, P. and Dabelea, D. and Abecasis, G. and Bell, G. I. and Cox, N. J. and Seielstad, M. and Sladek, R. and Meigs, J. B. and Rich, S. S. and Rotter, J. I. and Altshuler, D. and Burtt, N. P. and Scott, L. J. and Morris, A. P. and Florez, J. C. and McCarthy, M. I. and Boehnke, M.}
}
@article {8979,
	title = {{Gene Set Enrichment Analsyes Identify Pathways Involved in Genetic Risk for Diabetic Retinopathy},
	journal = {Am J Ophthalmol},
	volume = {233},
	year = {2022},
	month = {01},
	pages = {111{\textendash}123},
	abstract = {{To identify functionally related genes associated with diabetic retinopathy (DR) risk using gene set enrichment analyses applied to genome-wide association study meta-analyses.\ .05.\ .05) in the other method. These pathways were regulation of the lipid catabolic process (2-fold enrichment},
	author = {Sobrin, L. and Susarla, G. and Stanwyck, L. and Rouhana, J. M. and Li, A. and Pollack, S. and Igo, R. P. and Jensen, R. A. and Li, X. and Ng, M. C. Y. and Smith, A. V. and Kuo, J. Z. and Taylor, K. D. and Freedman, B. I. and Bowden, D. W. and Penman, A. and Chen, C. J. and Craig, J. E. and Adler, S. G. and Chew, E. Y. and Cotch, M. F. and Yaspan, B. and Mitchell, P. and Wang, J. J. and Klein, B. E. K. and Wong, T. Y. and Rotter, J. I. and Burdon, K. P. and Iyengar, S. K. and Segr{\`e}, A. V.}
}
@article {9263,
	title = {{A saturated map of common genetic variants associated with human height},
	journal = {Nature},
	volume = {610},
	year = {2022},
	month = {Oct},
	pages = {704{\textendash}712},
	abstract = {) account for 40\% (45\%) of phenotypic variance in populations of European ancestry but only around 10-20\% (14-24\%) in populations of other ancestries. Effect sizes, associated regions and gene prioritization are similar across ancestries, indicating that reduced prediction accuracy is likely to be explained by linkage disequilibrium and differences in allele frequency within associated regions. Finally, we show that the relevant biological pathways are detectable with smaller sample sizes than are needed to implicate causal genes and variants. Overall, this study provides a comprehensive map of specific genomic regions that contain the vast majority of common height-associated variants. Although this map is saturated for populations of European ancestry, further research is needed to achieve equivalent saturation in other ancestries.},
	author = {Yengo, L. and Vedantam, S. and Marouli, E. and Sidorenko, J. and Bartell, E. and Sakaue, S. and Graff, M. and Eliasen, A. U. and Jiang, Y. and Raghavan, S. and Miao, J. and Arias, J. D. and Graham, S. E. and Mukamel, R. E. and Spracklen, C. N. and Yin, X. and Chen, S. H. and Ferreira, T. and Highland, H. H. and Ji, Y. and Karaderi, T. and Lin, K. and ll, K. and Malden, D. E. and Medina-Gomez, C. and Machado, M. and Moore, A. and eger, S. and Sim, X. and Vrieze, S. and Ahluwalia, T. S. and Akiyama, M. and Allison, M. A. and Alvarez, M. and Andersen, M. K. and Ani, A. and Appadurai, V. and Arbeeva, L. and Bhaskar, S. and Bielak, L. F. and Bollepalli, S. and Bonnycastle, L. L. and Bork-Jensen, J. and Bradfield, J. P. and Bradford, Y. and Braund, P. S. and Brody, J. A. and Burgdorf, K. S. and Cade, B. E. and Cai, H. and Cai, Q. and Campbell, A. and adas-Garre, M. and Catamo, E. and Chai, J. F. and Chai, X. and Chang, L. C. and Chang, Y. C. and Chen, C. H. and Chesi, A. and Choi, S. H. and Chung, R. H. and Cocca, M. and Concas, M. P. and Couture, C. and Cuellar-Partida, G. and Danning, R. and Daw, E. W. and Degenhard, F. and Delgado, G. E. and Delitala, A. and Demirkan, A. and Deng, X. and Devineni, P. and Dietl, A. and Dimitriou, M. and Dimitrov, L. and Dorajoo, R. and Ekici, A. B. and Engmann, J. E. and Fairhurst-Hunter, Z. and Farmaki, A. E. and Faul, J. D. and Fernandez-Lopez, J. C. and Forer, L. and Francescatto, M. and Freitag-Wolf, S. and Fuchsberger, C. and Galesloot, T. E. and Gao, Y. and Gao, Z. and Geller, F. and Giannakopoulou, O. and Giulianini, F. and Gjesing, A. P. and Goel, A. and Gordon, S. D. and Gorski, M. and Grove, J. and Guo, X. and Gustafsson, S. and Haessler, J. and Hansen, T. F. and Havulinna, A. S. and Haworth, S. J. and He, J. and Heard-Costa, N. and Hebbar, P. and Hindy, G. and Ho, Y. A. and Hofer, E. and Holliday, E. and Horn, K. and Hornsby, W. E. and Hottenga, J. J. and Huang, H. and Huang, J. and Huerta-Chagoya, A. and Huffman, J. E. and Hung, Y. J. and Huo, S. and Hwang, M. Y. and Iha, H. and Ikeda, D. D. and Isono, M. and Jackson, A. U. and ger, S. and Jansen, I. E. and Johansson, I. and Jonas, J. B. and Jonsson, A. and rgensen, T. and Kalafati, I. P. and Kanai, M. and Kanoni, S. and rhus, L. L. and Kasturiratne, A. and Katsuya, T. and Kawaguchi, T. and Kember, R. L. and Kentistou, K. A. and Kim, H. N. and Kim, Y. J. and Kleber, M. E. and Knol, M. J. and Kurbasic, A. and Lauzon, M. and Le, P. and Lea, R. and Lee, J. Y. and Leonard, H. L. and Li, S. A. and Li, X. and Li, X. and Liang, J. and Lin, H. and Lin, S. Y. and Liu, J. and Liu, X. and Lo, K. S. and Long, J. and Lor{\'e}s-Motta, L. and Luan, J. and Lyssenko, V. and inen, L. P. and Mahajan, A. and Mamakou, V. and Mangino, M. and Manichaikul, A. and Marten, J. and Mattheisen, M. and Mavarani, L. and McDaid, A. F. and Meidtner, K. and Melendez, T. L. and Mercader, J. M. and Milaneschi, Y. and Miller, J. E. and Millwood, I. Y. and Mishra, P. P. and Mitchell, R. E. and llehave, L. T. and Morgan, A. and Mucha, S. and Munz, M. and Nakatochi, M. and Nelson, C. P. and Nethander, M. and Nho, C. W. and Nielsen, A. A. and Nolte, I. M. and Nongmaithem, S. S. and Noordam, R. and Ntalla, I. and Nutile, T. and Pandit, A. and Christofidou, P. and rna, K. and Pauper, M. and Petersen, E. R. B. and Petersen, L. V. and nen, N. and ek, O. and Poveda, A. and Preuss, M. H. and Pyarajan, S. and Raffield, L. M. and Rakugi, H. and Ramirez, J. and Rasheed, A. and Raven, D. and Rayner, N. W. and Riveros, C. and Rohde, R. and Ruggiero, D. and Ruotsalainen, S. E. and Ryan, K. A. and Sabater-Lleal, M. and Saxena, R. and Scholz, M. and Sendamarai, A. and Shen, B. and Shi, J. and Shin, J. H. and Sidore, C. and Sitlani, C. M. and Slieker, R. C. and Smit, R. A. J. and Smith, A. V. and Smith, J. A. and Smyth, L. J. and Southam, L. and Steinthorsdottir, V. and Sun, L. and Takeuchi, F. and Tallapragada, D. S. P. and Taylor, K. D. and Tayo, B. O. and Tcheandjieu, C. and Terzikhan, N. and Tesolin, P. and Teumer, A. and Theusch, E. and Thompson, D. J. and Thorleifsson, G. and Timmers, P. R. H. J. and Trompet, S. and Turman, C. and Vaccargiu, S. and van der Laan, S. W. and van der Most, P. J. and van Klinken, J. B. and van Setten, J. and Verma, S. S. and Verweij, N. and Veturi, Y. and Wang, C. A. and Wang, C. and Wang, L. and Wang, Z. and Warren, H. R. and Bin Wei, W. and Wickremasinghe, A. R. and Wielscher, M. and Wiggins, K. L. and Winsvold, B. S. and Wong, A. and Wu, Y. and Wuttke, M. and Xia, R. and Xie, T. and Yamamoto, K. and Yang, J. and Yao, J. and Young, H. and Yousri, N. A. and Yu, L. and Zeng, L. and Zhang, W. and Zhang, X. and Zhao, J. H. and Zhao, W. and Zhou, W. and Zimmermann, M. E. and Zoledziewska, M. and Adair, L. S. and Adams, H. H. H. and Aguilar-Salinas, C. A. and Al-Mulla, F. and Arnett, D. K. and Asselbergs, F. W. and svold, B. O. and Attia, J. and Banas, B. and Bandinelli, S. and Bennett, D. A. and Bergler, T. and Bharadwaj, D. and Biino, G. and Bisgaard, H. and Boerwinkle, E. and ger, C. A. and nnelykke, K. and Boomsma, D. I. and rglum, A. D. and Borja, J. B. and Bouchard, C. and Bowden, D. W. and Brandslund, I. and Brumpton, B. and Buring, J. E. and Caulfield, M. J. and Chambers, J. C. and Chandak, G. R. and Chanock, S. J. and Chaturvedi, N. and Chen, Y. I. and Chen, Z. and Cheng, C. Y. and Christophersen, I. E. and Ciullo, M. and Cole, J. W. and Collins, F. S. and Cooper, R. S. and Cruz, M. and Cucca, F. and Cupples, L. A. and Cutler, M. J. and Damrauer, S. M. and Dantoft, T. M. and de Borst, G. J. and de Groot, L. C. P. G. M. and De Jager, P. L. and de Kleijn, D. P. V. and Janaka de Silva, H. and Dedoussis, G. V. and den Hollander, A. I. and Du, S. and Easton, D. F. and Elders, P. J. M. and Eliassen, A. H. and Ellinor, P. 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O. and Morris, A. D. and Mucci, L. A. and Munroe, P. B. and Nalls, M. A. and Nazarian, S. and Nelson, A. E. and Neville, M. J. and Newton-Cheh, C. and Nielsen, C. S. and then, M. M. and Ohlsson, C. and Oldehinkel, A. J. and Orozco, L. and Pahkala, K. and Pajukanta, P. and Palmer, C. N. A. and Parra, E. J. and Pattaro, C. and Pedersen, O. and Pennell, C. E. and Penninx, B. W. J. H. and P{\'e}russe, L. and Peters, A. and Peyser, P. A. and Porteous, D. J. and Posthuma, D. and Power, C. and Pramstaller, P. P. and Province, M. A. and Qi, Q. and Qu, J. and Rader, D. J. and Raitakari, O. T. and Ralhan, S. and Rallidis, L. S. and Rao, D. C. and Redline, S. and Reilly, D. F. and Reiner, A. P. and Rhee, S. Y. and Ridker, P. M. and Rienstra, M. and Ripatti, S. and Ritchie, M. D. and Roden, D. M. and Rosendaal, F. R. and Rotter, J. I. and Rudan, I. and Rutters, F. and Sabanayagam, C. and Saleheen, D. and Salomaa, V. and Samani, N. J. and Sanghera, D. 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C. and Sun, Y. and Croteau-Chonka, D. and Vonk, J. M. and Chanock, S. and Le Marchand, L.}
}
