FinnGen provides genetic insights from a well-phenotyped isolated population

Autor: Kurki, Mitja I, Karjalainen, Juha, Palta, Priit, Sipilä, Timo P, Kristiansson, Kati, Donner, Kati M, Reeve, Mary P, Laivuori, Hannele, Aavikko, Mervi, Kaunisto, Mari A, Loukola, Anu, Lahtela, Elisa, Mattsson, Hannele, Laiho, Päivi, Della Briotta Parolo, Pietro, Lehisto, Arto A, Kanai, Masahiro, Mars, Nina, Rämö, Joel, Kiiskinen, Tuomo, Heyne, Henrike O, Veerapen, Kumar, Rüeger, Sina, Lemmelä, Susanna, Zhou, Wei, Ruotsalainen, Sanni, Pärn, Kalle, Hiekkalinna, Tero, Koskelainen, Sami, Paajanen, Teemu, Llorens, Vincent, Gracia-Tabuenca, Javier, Siirtola, Harri, Reis, Kadri, Elnahas, Abdelrahman G, Sun, Benjamin, Foley, Christopher N, Aalto-Setälä, Katriina, Alasoo, Kaur, Arvas, Mikko, Auro, Kirsi, Biswas, Shameek, Bizaki-Vallaskangas, Argyro, Carpen, Olli, Chen, Chia-Yen, Dada, Oluwaseun A, Ding, Zhihao, Ehm, Margaret G, Eklund, Kari, Färkkilä, Martti, Finucane, Hilary, Ganna, Andrea, Ghazal, Awaisa, Graham, Robert R, Green, Eric M, Hakanen, Antti, Hautalahti, Marco, Hedman, Åsa K, Hiltunen, Mikko, Hinttala, Reetta, Hovatta, Iiris, Hu, Xinli, Huertas-Vazquez, Adriana, Huilaja, Laura, Hunkapiller, Julie, Jacob, Howard, Jensen, Jan-Nygaard, Joensuu, Heikki, John, Sally, Julkunen, Valtteri, Jung, Marc, Junttila, Juhani, Kaarniranta, Kai, Kähönen, Mika, Kajanne, Risto, Kallio, Lila, Kälviäinen, Reetta, Kaprio, Jaakko, FinnGen, Kerimov, Nurlan, Kettunen, Johannes, Kilpeläinen, Elina, Kilpi, Terhi, Klinger, Katherine, Kosma, Veli-Matti, Kuopio, Teijo, Kurra, Venla, Laisk, Triin, Laukkanen, Jari, Lawless, Nathan, Liu, Aoxing, Longerich, Simonne, Mägi, Reedik, Mäkelä, Johanna, Mäkitie, Antti, Malarstig, Anders, Mannermaa, Arto, Maranville, Joseph, Matakidou, Athena, Meretoja, Tuomo, Mozaffari, Sahar V, Niemi, Mari EK, Niemi, Marianna, Niiranen, Teemu, O Donnell, Christopher J, Obeidat, Ma En, Okafo, George, Ollila, Hanna M, Palomäki, Antti, Palotie, Tuula, Partanen, Jukka, Paul, Dirk S, Pelkonen, Margit, Pendergrass, Rion K, Petrovski, Slavé, Pitkäranta, Anne, Platt, Adam, Pulford, David, Punkka, Eero, Pussinen, Pirkko, Raghavan, Neha, Rahimov, Fedik, Rajpal, Deepak, Renaud, Nicole A, Riley-Gillis, Bridget, Rodosthenous, Rodosthenis, Saarentaus, Elmo, Salminen, Aino, Salminen, Eveliina, Salomaa, Veikko, Schleutker, Johanna, Serpi, Raisa, Shen, Huei-Yi, Siegel, Richard, Silander, Kaisa, Siltanen, Sanna, Soini, Sirpa, Soininen, Hilkka, Sul, Jae Hoon, Tachmazidou, Ioanna, Tasanen, Kaisa, Tienari, Pentti, Toppila-Salmi, Sanna, Tukiainen, Taru, Tuomi, Tiinamaija, Turunen, Joni A, Ulirsch, Jacob C, Vaura, Felix, Virolainen, Petri, Waring, Jeffrey, Waterworth, Dawn, Yang, Robert, Nelis, Mari, Reigo, Anu, Metspalu, Andres, Milani, Lili, Esko, Tõnu, Fox, Caroline, Havulinna, Aki S, Perola, Markus, Ripatti, Samuli, Jalanko, Anu, Laitinen, Tarja, Mäkelä, Tomi P, Plenge, Robert, McCarthy, Mark, Runz, Heiko, Daly, Mark J, Palotie, Aarno

Population isolates such as those in Finland benefit genetic research because deleterious alleles are often concentrated on a small number of low-frequency variants (0.1% ≤ minor allele frequency < 5%). These variants survived the founding bottlene

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0d32f429d6345a0300cb72f40f8b18ba

Contextualizing genetic risk score for disease screening and rare variant discovery

Autor: Dan Zhou, Edwin H. Cook, S. Hong Lee, Lauren M. McGrath, Lea K. Davis, Eric R. Gamazon, Carol A. Mathews, Dongmei Yu, Jeremiah M. Scharf

Publikováno v: Nature Communications
Nature Communications, Vol 12, Iss 1, Pp 1-14 (2021)

Funder: U.S. Department of Health & Human Services | National Institutes of Health (NIH)
Studies of the genetic basis of complex traits have demonstrated a substantial role for common, small-effect variant polygenic burden (PB) as well as large-

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::489b0a833148b4c9da8a20f72b69fb92
https://hdl.handle.net/11541.2/148221