FinnGen provides genetic insights from a well-phenotyped isolated population.
Nature
Kurki, Mitja I MI; Karjalainen, Juha J; Palta, Priit P; Sipilä, Timo P TP; Kristiansson, Kati K; Donner, Kati M KM; Reeve, Mary P MP; Laivuori, Hannele H; Aavikko, Mervi M; Kaunisto, Mari A MA; Loukola, Anu A; Lahtela, Elisa E; Mattsson, Hannele H; Laiho, Päivi P; Della Briotta Parolo, Pietro P; Lehisto, Arto A AA; Kanai, Masahiro M; Mars, Nina N; Rämö, Joel J; Kiiskinen, Tuomo T; Heyne, Henrike O HO; Veerapen, Kumar K; Rüeger, Sina S; Lemmelä, Susanna S; Zhou, Wei W; Ruotsalainen, Sanni S; Pärn, Kalle K; Hiekkalinna, Tero T; Koskelainen, Sami S; Paajanen, Teemu T; Llorens, Vincent V; Gracia-Tabuenca, Javier J; Siirtola, Harri H; Reis, Kadri K; Elnahas, Abdelrahman G AG; Sun, Benjamin B; Foley, Christopher N CN; Aalto-Setälä, Katriina K; Alasoo, Kaur K; Arvas, Mikko M; Auro, Kirsi K; Biswas, Shameek S; Bizaki-Vallaskangas, Argyro A; Carpen, Olli O; Chen, Chia-Yen CY; Dada, Oluwaseun A OA; Ding, Zhihao Z; Ehm, Margaret G MG; Eklund, Kari K; Färkkilä, Martti M; Finucane, Hilary H; Ganna, Andrea A; Ghazal, Awaisa A; Graham, Robert R RR; Green, Eric M EM; Hakanen, Antti A; Hautalahti, Marco M; Hedman, Åsa K ÅK; Hiltunen, Mikko M; Hinttala, Reetta R; Hovatta, Iiris I; Hu, Xinli X; Huertas-Vazquez, Adriana A; Huilaja, Laura L; Hunkapiller, Julie J; Jacob, Howard H; Jensen, Jan-Nygaard JN; Joensuu, Heikki H; John, Sally S; Julkunen, Valtteri V; Jung, Marc M; Junttila, Juhani J; Kaarniranta, Kai K; Kähönen, Mika M; Kajanne, Risto R; Kallio, Lila L; Kälviäinen, Reetta R; Kaprio, Jaakko J; , ; Kerimov, Nurlan N; Kettunen, Johannes J; Kilpeläinen, Elina E; Kilpi, Terhi T; Klinger, Katherine K; Kosma, Veli-Matti VM; Kuopio, Teijo T; Kurra, Venla V; Laisk, Triin T; Laukkanen, Jari J; Lawless, Nathan N; Liu, Aoxing A; Longerich, Simonne S; Mägi, Reedik R; Mäkelä, Johanna J; Mäkitie, Antti A; Malarstig, Anders A; Mannermaa, Arto A; Maranville, Joseph J; Matakidou, Athena A; Meretoja, Tuomo T; Mozaffari, Sahar V SV; Niemi, Mari E K MEK; Niemi, Marianna M; Niiranen, Teemu T; O Donnell, Christopher J CJ; Obeidat, Ma En ME; Okafo, George G; Ollila, Hanna M HM; Palomäki, Antti A; Palotie, Tuula T; Partanen, Jukka J; Paul, Dirk S DS; Pelkonen, Margit M; Pendergrass, Rion K RK; Petrovski, Slavé S; Pitkäranta, Anne A; Platt, Adam A; Pulford, David D; Punkka, Eero E; Pussinen, Pirkko P; Raghavan, Neha N; Rahimov, Fedik F; Rajpal, Deepak D; Renaud, Nicole A NA; Riley-Gillis, Bridget B; Rodosthenous, Rodosthenis R; Saarentaus, Elmo E; Salminen, Aino A; Salminen, Eveliina E; Salomaa, Veikko V; Schleutker, Johanna J; Serpi, Raisa R; Shen, Huei-Yi HY; Siegel, Richard R; Silander, Kaisa K; Siltanen, Sanna S; Soini, Sirpa S; Soininen, Hilkka H; Sul, Jae Hoon JH; Tachmazidou, Ioanna I; Tasanen, Kaisa K; Tienari, Pentti P; Toppila-Salmi, Sanna S; Tukiainen, Taru T; Tuomi, Tiinamaija T; Turunen, Joni A JA; Ulirsch, Jacob C JC; Vaura, Felix F; Virolainen, Petri P; Waring, Jeffrey J; Waterworth, Dawn D; Yang, Robert R; Nelis, Mari M; Reigo, Anu A; Metspalu, Andres A; Milani, Lili L; Esko, Tõnu T; Fox, Caroline C; Havulinna, Aki S AS; Perola, Markus M; Ripatti, Samuli S; Jalanko, Anu A; Laitinen, Tarja T; Mäkelä, Tomi P TP; Plenge, Robert R; McCarthy, Mark M; Runz, Heiko H; Daly, Mark J MJ; Palotie, Aarno A
Is the disease risk and penetrance in Leber hereditary optic neuropathy actually low?
American Journal Of Human Genetics
Mackey, David A DA; Ong, Jue-Sheng JS; MacGregor, Stuart S; Whiteman, David C DC; Craig, Jamie E JE; Lopez Sanchez, M Isabel G MIG; Kearns, Lisa S LS; Staffieri, Sandra E SE; Clarke, Linda L; McGuinness, Myra B MB; Meteoukki, Wafaa W; Samuel, Sona S; Ruddle, Jonathan B JB; Chen, Celia C; Fraser, Clare L CL; Harrison, John J; Howell, Neil N; Hewitt, Alex W AW
Publication Date: 2022-12-20
Variant appearance in text: MYOC: Gln368Ter; rs74315329
Exome sequencing and analysis of 454,787 UK Biobank participants.
Nature
Backman, Joshua D JD; Li, Alexander H AH; Marcketta, Anthony A; Sun, Dylan D; Mbatchou, Joelle J; Kessler, Michael D MD; Benner, Christian C; Liu, Daren D; Locke, Adam E AE; Balasubramanian, Suganthi S; Yadav, Ashish A; Banerjee, Nilanjana N; Gillies, Christopher E CE; Damask, Amy A; Liu, Simon S; Bai, Xiaodong X; Hawes, Alicia A; Maxwell, Evan E; Gurski, Lauren L; Watanabe, Kyoko K; Kosmicki, Jack A JA; Rajagopal, Veera V; Mighty, Jason J; , ; , ; Jones, Marcus M; Mitnaul, Lyndon L; Stahl, Eli E; Coppola, Giovanni G; Jorgenson, Eric E; Habegger, Lukas L; Salerno, William J WJ; Shuldiner, Alan R AR; Lotta, Luca A LA; Overton, John D JD; Cantor, Michael N MN; Reid, Jeffrey G JG; Yancopoulos, George G; Kang, Hyun M HM; Marchini, Jonathan J; Baras, Aris A; Abecasis, Gonçalo R GR; Ferreira, Manuel A R MAR
Genome-wide meta-analysis identifies 127 open-angle glaucoma loci with consistent effect across ancestries.
Nature Communications
Gharahkhani, Puya P; Jorgenson, Eric E; Hysi, Pirro P; Khawaja, Anthony P AP; Pendergrass, Sarah S; Han, Xikun X; Ong, Jue Sheng JS; Hewitt, Alex W AW; Segrè, Ayellet V AV; Rouhana, John M JM; Hamel, Andrew R AR; Igo, Robert P RP; Choquet, Helene H; Qassim, Ayub A; Josyula, Navya S NS; Cooke Bailey, Jessica N JN; Bonnemaijer, Pieter W M PWM; Iglesias, Adriana A; Siggs, Owen M OM; Young, Terri L TL; Vitart, Veronique V; Thiadens, Alberta A H J AAHJ; Karjalainen, Juha J; Uebe, Steffen S; Melles, Ronald B RB; Nair, K Saidas KS; Luben, Robert R; Simcoe, Mark M; Amersinghe, Nishani N; Cree, Angela J AJ; Hohn, Rene R; Poplawski, Alicia A; Chen, Li Jia LJ; Rong, Shi-Song SS; Aung, Tin T; Vithana, Eranga Nishanthie EN; , ; , ; , ; , ; , ; , ; , ; Tamiya, Gen G; Shiga, Yukihiro Y; Yamamoto, Masayuki M; Nakazawa, Toru T; Currant, Hannah H; Birney, Ewan E; Wang, Xin X; Auton, Adam A; Lupton, Michelle K MK; Martin, Nicholas G NG; Ashaye, Adeyinka A; Olawoye, Olusola O; Williams, Susan E SE; Akafo, Stephen S; Ramsay, Michele M; Hashimoto, Kazuki K; Kamatani, Yoichiro Y; Akiyama, Masato M; Momozawa, Yukihide Y; Foster, Paul J PJ; Khaw, Peng T PT; Morgan, James E JE; Strouthidis, Nicholas G NG; Kraft, Peter P; Kang, Jae H JH; Pang, Chi Pui CP; Pasutto, Francesca F; Mitchell, Paul P; Lotery, Andrew J AJ; Palotie, Aarno A; van Duijn, Cornelia C; Haines, Jonathan L JL; Hammond, Chris C; Pasquale, Louis R LR; Klaver, Caroline C W CCW; Hauser, Michael M; Khor, Chiea Chuen CC; Mackey, David A DA; Kubo, Michiaki M; Cheng, Ching-Yu CY; Craig, Jamie E JE; MacGregor, Stuart S; Wiggs, Janey L JL
Autophagy stimulation reduces ocular hypertension in a murine glaucoma model via autophagic degradation of mutant myocilin.
Jci Insight
Kasetti, Ramesh B RB; Maddineni, Prabhavathi P; Kiehlbauch, Charles C; Patil, Shruti S; Searby, Charles C CC; Levine, Beth B; Sheffield, Val C VC; Zode, Gulab S GS
Polygenic background modifies penetrance of monogenic variants for tier 1 genomic conditions.
Nature Communications
Fahed, Akl C AC; Wang, Minxian M; Homburger, Julian R JR; Patel, Aniruddh P AP; Bick, Alexander G AG; Neben, Cynthia L CL; Lai, Carmen C; Brockman, Deanna D; Philippakis, Anthony A; Ellinor, Patrick T PT; Cassa, Christopher A CA; Lebo, Matthew M; Ng, Kenney K; Lander, Eric S ES; Zhou, Alicia Y AY; Kathiresan, Sekar S; Khera, Amit V AV
Rare protein-altering variants in ANGPTL7 lower intraocular pressure and protect against glaucoma.
Plos Genetics
Tanigawa, Yosuke Y; Wainberg, Michael M; Karjalainen, Juha J; Kiiskinen, Tuomo T; Venkataraman, Guhan G; Lemmelä, Susanna S; Turunen, Joni A JA; Graham, Robert R RR; Havulinna, Aki S AS; Perola, Markus M; Palotie, Aarno A; , ; Daly, Mark J MJ; Rivas, Manuel A MA
Multitrait analysis of glaucoma identifies new risk loci and enables polygenic prediction of disease susceptibility and progression.
Nature Genetics
Craig, Jamie E JE; Han, Xikun X; Qassim, Ayub A; Hassall, Mark M; Cooke Bailey, Jessica N JN; Kinzy, Tyler G TG; Khawaja, Anthony P AP; An, Jiyuan J; Marshall, Henry H; Gharahkhani, Puya P; Igo, Robert P RP; Graham, Stuart L SL; Healey, Paul R PR; Ong, Jue-Sheng JS; Zhou, Tiger T; Siggs, Owen O; Law, Matthew H MH; Souzeau, Emmanuelle E; Ridge, Bronwyn B; Hysi, Pirro G PG; Burdon, Kathryn P KP; Mills, Richard A RA; Landers, John J; Ruddle, Jonathan B JB; Agar, Ashish A; Galanopoulos, Anna A; White, Andrew J R AJR; Willoughby, Colin E CE; Andrew, Nicholas H NH; Best, Stephen S; Vincent, Andrea L AL; Goldberg, Ivan I; Radford-Smith, Graham G; Martin, Nicholas G NG; Montgomery, Grant W GW; Vitart, Veronique V; Hoehn, Rene R; Wojciechowski, Robert R; Jonas, Jost B JB; Aung, Tin T; Pasquale, Louis R LR; Cree, Angela Jane AJ; Sivaprasad, Sobha S; Vallabh, Neeru A NA; , ; , ; Viswanathan, Ananth C AC; Pasutto, Francesca F; Haines, Jonathan L JL; Klaver, Caroline C W CCW; van Duijn, Cornelia M CM; Casson, Robert J RJ; Foster, Paul J PJ; Khaw, Peng Tee PT; Hammond, Christopher J CJ; Mackey, David A DA; Mitchell, Paul P; Lotery, Andrew J AJ; Wiggs, Janey L JL; Hewitt, Alex W AW; MacGregor, Stuart S
Publication Date: 2020-02
Variant appearance in text: MYOC: Gln368Ter; rs74315329
Optimizing clinical exome design and parallel gene-testing for recessive genetic conditions in preconception carrier screening: Translational research genomic data from 14,125 exomes.
Plos Genetics
Capalbo, Antonio A; Valero, Roberto Alonso RA; Jimenez-Almazan, Jorge J; Pardo, Pere Mir PM; Fabiani, Marco M; Jiménez, David D; Simon, Carlos C; Rodriguez, Julio Martin JM
Publication Date: 2019-10
Variant appearance in text: MYOC: 1102C>T; Gln368*; rs74315329
Genetic Profile and Clinical Implications of Hepatoblastoma and Neuroblastoma Coexistence in a Child.
Frontiers In Oncology
Skoczen, Szymon S; Stepien, Konrad K; Krzysztofik, Marta M; Luszawska, Teresa T; Hnatko-Kolacz, Malgorzata M; Korostynski, Michal M; Piechota, Marcin M; Kolanek, Katarzyna K; Wyrobek, Lukasz L; Wysocka, Katarzyna K; Gorecki, Wojciech W; Balwierz, Walentyna W
Myocilin Mutations in Patients With Normal-Tension Glaucoma.
Jama Ophthalmology
Alward, Wallace L M WLM; van der Heide, Carly C; Khanna, Cheryl L CL; Roos, Ben R BR; Sivaprasad, Sobha S; Kam, Jason J; Ritch, Robert R; Lotery, Andrew A; Igo, Robert P RP; Cooke Bailey, Jessica N JN; Stone, Edwin M EM; Scheetz, Todd E TE; Kwon, Young H YH; Pasquale, Louis R LR; Wiggs, Janey L JL; Fingert, John H JH; ,
Publication Date: 2019-05-01
Variant appearance in text: MYOC: Gln368Ter; rs74315329
Comprehensive sequencing of the myocilin gene in a selected cohort of severe primary open-angle glaucoma patients.
Scientific Reports
O'Gorman, Luke L; Cree, Angela J AJ; Ward, Daniel D; Griffiths, Helen L HL; Sood, Roshan R; Denniston, Alastair K AK; Self, Jay E JE; Ennis, Sarah S; Lotery, Andrew J AJ; Gibson, Jane J
Publication Date: 2019-02-28
Variant appearance in text: MYOC: Q368*; rs74315329
A semiautomated whole-exome sequencing workflow leads to increased diagnostic yield and identification of novel candidate variants.
Cold Spring Harbor Molecular Case Studies
Ji, Jianling J; Shen, Lishuang L; Bootwalla, Moiz M; Quindipan, Catherine C; Tatarinova, Tatiana T; Maglinte, Dennis T DT; Buckley, Jonathan J; Raca, Gordana G; Saitta, Sulagna C SC; Biegel, Jaclyn A JA; Gai, Xiaowu X
Publication Date: 2019-04
Variant appearance in text: MYOC: 1102C>T; Gln368*
Genomic and Transcriptomic Characterization Links Cell Lines with Aggressive Head and Neck Cancers.
Cell Reports
Cheng, Hui H; Yang, Xinping X; Si, Han H; Saleh, Anthony D AD; Xiao, Wenming W; Coupar, Jamie J; Gollin, Susanne M SM; Ferris, Robert L RL; Issaeva, Natalia N; Yarbrough, Wendell G WG; Prince, Mark E ME; Carey, Thomas E TE; Van Waes, Carter C; Chen, Zhong Z
Publication Date: 2018-10-30
Variant appearance in text: MYOC: Q368X; rs74315329
Myocilin Gene Gln368Ter Variant Penetrance and Association With Glaucoma in Population-Based and Registry-Based Studies.
Jama Ophthalmology
Han, Xikun X; Souzeau, Emmanuelle E; Ong, Jue-Sheng JS; An, Jiyuan J; Siggs, Owen M OM; Burdon, Kathryn P KP; Best, Stephen S; Goldberg, Ivan I; Healey, Paul R PR; Graham, Stuart L SL; Ruddle, Jonathan B JB; Mills, Richard A RA; Landers, John J; Galanopoulos, Anna A; White, Andrew J R AJR; Casson, Robert R; Mackey, David A DA; Hewitt, Alex W AW; Gharahkhani, Puya P; Craig, Jamie E JE; MacGregor, Stuart S
Publication Date: 2019-01-01
Variant appearance in text: MYOC: Gln368Ter; rs74315329
Efficiently controlling for case-control imbalance and sample relatedness in large-scale genetic association studies.
Nature Genetics
Zhou, Wei W; Nielsen, Jonas B JB; Fritsche, Lars G LG; Dey, Rounak R; Gabrielsen, Maiken E ME; Wolford, Brooke N BN; LeFaive, Jonathon J; VandeHaar, Peter P; Gagliano, Sarah A SA; Gifford, Aliya A; Bastarache, Lisa A LA; Wei, Wei-Qi WQ; Denny, Joshua C JC; Lin, Maoxuan M; Hveem, Kristian K; Kang, Hyun Min HM; Abecasis, Goncalo R GR; Willer, Cristen J CJ; Lee, Seunggeun S
Genome-wide analyses identify 68 new loci associated with intraocular pressure and improve risk prediction for primary open-angle glaucoma.
Nature Genetics
Khawaja, Anthony P AP; Cooke Bailey, Jessica N JN; Wareham, Nicholas J NJ; Scott, Robert A RA; Simcoe, Mark M; Igo, Robert P RP; Song, Yeunjoo E YE; Wojciechowski, Robert R; Cheng, Ching-Yu CY; Khaw, Peng T PT; Pasquale, Louis R LR; Haines, Jonathan L JL; Foster, Paul J PJ; Wiggs, Janey L JL; Hammond, Chris J CJ; Hysi, Pirro G PG; , ; ,
Medical relevance of protein-truncating variants across 337,205 individuals in the UK Biobank study.
Nature Communications
DeBoever, Christopher C; Tanigawa, Yosuke Y; Lindholm, Malene E ME; McInnes, Greg G; Lavertu, Adam A; Ingelsson, Erik E; Chang, Chris C; Ashley, Euan A EA; Bustamante, Carlos D CD; Daly, Mark J MJ; Rivas, Manuel A MA
High-Throughput Genetic Screening of 51 Pediatric Cataract Genes Identifies Causative Mutations in Inherited Pediatric Cataract in South Eastern Australia.
G3 (Bethesda, Md.)
Javadiyan, Shari S; Craig, Jamie E JE; Souzeau, Emmanuelle E; Sharma, Shiwani S; Lower, Karen M KM; Mackey, David A DA; Staffieri, Sandra E SE; Elder, James E JE; Taranath, Deepa D; Straga, Tania T; Black, Joanna J; Pater, John J; Casey, Theresa T; Hewitt, Alex W AW; Burdon, Kathryn P KP
Pro-fibrotic pathway activation in trabecular meshwork and lamina cribrosa is the main driving force of glaucoma.
Cell Cycle (Georgetown, Tex.)
Zhavoronkov, Alex A; Izumchenko, Evgeny E; Kanherkar, Riya R RR; Teka, Mahder M; Cantor, Charles C; Manaye, Kebreten K; Sidransky, David D; West, Michael D MD; Makarev, Eugene E; Csoka, Antonei Benjamin AB