Fine-mapping of retinal vascular complexity loci identifies Notch regulation as a shared mechanism with myocardial infarction outcomes.
Communications Biology
Villaplana-Velasco, Ana A; Pigeyre, Marie M; Engelmann, Justin J; Rawlik, Konrad K; Canela-Xandri, Oriol O; Tochel, Claire C; Lona-Durazo, Frida F; Mookiah, Muthu Rama Krishnan MRK; Doney, Alex A; Parra, Esteban J EJ; Trucco, Emanuele E; MacGillivray, Tom T; Rannikmae, Kristiina K; Tenesa, Albert A; Pairo-Castineira, Erola E; Bernabeu, Miguel O MO
Network expansion of genetic associations defines a pleiotropy map of human cell biology.
Nature Genetics
Barrio-Hernandez, Inigo I; Schwartzentruber, Jeremy J; Shrivastava, Anjali A; Del-Toro, Noemi N; Gonzalez, Asier A; Zhang, Qian Q; Mountjoy, Edward E; Suveges, Daniel D; Ochoa, David D; Ghoussaini, Maya M; Bradley, Glyn G; Hermjakob, Henning H; Orchard, Sandra S; Dunham, Ian I; Anderson, Carl A CA; Porras, Pablo P; Beltrao, Pedro P
Exploring the possibility of predicting human head hair greying from DNA using whole-exome and targeted NGS data.
Bmc Genomics
Pośpiech, Ewelina E; Kukla-Bartoszek, Magdalena M; Karłowska-Pik, Joanna J; Zieliński, Piotr P; Woźniak, Anna A; Boroń, Michał M; Dąbrowski, Michał M; Zubańska, Magdalena M; Jarosz, Agata A; Grzybowski, Tomasz T; Płoski, Rafał R; Spólnicka, Magdalena M; Branicki, Wojciech W
Genome-wide association meta-analysis of individuals of European ancestry identifies new loci explaining a substantial fraction of hair color variation and heritability.
Nature Genetics
Hysi, Pirro G PG; Valdes, Ana M AM; Liu, Fan F; Furlotte, Nicholas A NA; Evans, David M DM; Bataille, Veronique V; Visconti, Alessia A; Hemani, Gibran G; McMahon, George G; Ring, Susan M SM; Smith, George Davey GD; Duffy, David L DL; Zhu, Gu G; Gordon, Scott D SD; Medland, Sarah E SE; Lin, Bochao D BD; Willemsen, Gonneke G; Jan Hottenga, Jouke J; Vuckovic, Dragana D; Girotto, Giorgia G; Gandin, Ilaria I; Sala, Cinzia C; Concas, Maria Pina MP; Brumat, Marco M; Gasparini, Paolo P; Toniolo, Daniela D; Cocca, Massimiliano M; Robino, Antonietta A; Yazar, Seyhan S; Hewitt, Alex W AW; Chen, Yan Y; Zeng, Changqing C; Uitterlinden, Andre G AG; Ikram, M Arfan MA; Hamer, Merel A MA; van Duijn, Cornelia M CM; Nijsten, Tamar T; Mackey, David A DA; Falchi, Mario M; Boomsma, Dorret I DI; Martin, Nicholas G NG; , ; Hinds, David A DA; Kayser, Manfred M; Spector, Timothy D TD
Population genomics of Mesolithic Scandinavia: Investigating early postglacial migration routes and high-latitude adaptation.
Plos Biology
Günther, Torsten T; Malmström, Helena H; Svensson, Emma M EM; Omrak, Ayça A; Sánchez-Quinto, Federico F; Kılınç, Gülşah M GM; Krzewińska, Maja M; Eriksson, Gunilla G; Fraser, Magdalena M; Edlund, Hanna H; Munters, Arielle R AR; Coutinho, Alexandra A; Simões, Luciana G LG; Vicente, Mário M; Sjölander, Anders A; Jansen Sellevold, Berit B; Jørgensen, Roger R; Claes, Peter P; Shriver, Mark D MD; Valdiosera, Cristina C; Netea, Mihai G MG; Apel, Jan J; Lidén, Kerstin K; Skar, Birgitte B; Storå, Jan J; Götherström, Anders A; Jakobsson, Mattias M
Loci associated with skin pigmentation identified in African populations.
Science (New York, N.Y.)
Crawford, Nicholas G NG; Kelly, Derek E DE; Hansen, Matthew E B MEB; Beltrame, Marcia H MH; Fan, Shaohua S; Bowman, Shanna L SL; Jewett, Ethan E; Ranciaro, Alessia A; Thompson, Simon S; Lo, Yancy Y; Pfeifer, Susanne P SP; Jensen, Jeffrey D JD; Campbell, Michael C MC; Beggs, William W; Hormozdiari, Farhad F; Mpoloka, Sununguko Wata SW; Mokone, Gaonyadiwe George GG; Nyambo, Thomas T; Meskel, Dawit Wolde DW; Belay, Gurja G; Haut, Jake J; , ; Rothschild, Harriet H; Zon, Leonard L; Zhou, Yi Y; Kovacs, Michael A MA; Xu, Mai M; Zhang, Tongwu T; Bishop, Kevin K; Sinclair, Jason J; Rivas, Cecilia C; Elliot, Eugene E; Choi, Jiyeon J; Li, Shengchao A SA; Hicks, Belynda B; Burgess, Shawn S; Abnet, Christian C; Watkins-Chow, Dawn E DE; Oceana, Elena E; Song, Yun S YS; Eskin, Eleazar E; Brown, Kevin M KM; Marks, Michael S MS; Loftus, Stacie K SK; Pavan, William J WJ; Yeager, Meredith M; Chanock, Stephen S; Tishkoff, Sarah A SA
Variants at the OCA2/HERC2 locus affect time to first cutaneous squamous cell carcinoma in solid organ transplant recipients collected using two different study designs.
The British Journal Of Dermatology
Wei, L L; Allain, D C DC; Bernhardt, M N MN; Gillespie, J L JL; Peters, S B SB; Iwenofu, O H OH; Nelson, H H HH; Arron, S T ST; Toland, A E AE
Genetic markers of pigmentation are novel risk loci for uveal melanoma.
Scientific Reports
Ferguson, Robert R; Vogelsang, Matjaz M; Ucisik-Akkaya, Esma E; Rai, Karan K; Pilarski, Robert R; Martinez, Carlos N CN; Rendleman, Justin J; Kazlow, Esther E; Nagdimov, Khagay K; Osman, Iman I; Klein, Robert J RJ; Davidorf, Frederick H FH; Cebulla, Colleen M CM; Abdel-Rahman, Mohamed H MH; Kirchhoff, Tomas T
Crowdsourced direct-to-consumer genomic analysis of a family quartet.
Bmc Genomics
Corpas, Manuel M; Valdivia-Granda, Willy W; Torres, Nazareth N; Greshake, Bastian B; Coletta, Alain A; Knaus, Alexej A; Harrison, Andrew P AP; Cariaso, Mike M; Moran, Federico F; Nielsen, Fiona F; Swan, Daniel D; Weiss Solís, David Y DY; Krawitz, Peter P; Schacherer, Frank F; Schols, Peter P; Yang, Huangming H; Borry, Pascal P; Glusman, Gustavo G; Robinson, Peter N PN
Ancient human genomes suggest three ancestral populations for present-day Europeans.
Nature
Lazaridis, Iosif I; Patterson, Nick N; Mittnik, Alissa A; Renaud, Gabriel G; Mallick, Swapan S; Kirsanow, Karola K; Sudmant, Peter H PH; Schraiber, Joshua G JG; Castellano, Sergi S; Lipson, Mark M; Berger, Bonnie B; Economou, Christos C; Bollongino, Ruth R; Fu, Qiaomei Q; Bos, Kirsten I KI; Nordenfelt, Susanne S; Li, Heng H; de Filippo, Cesare C; Prüfer, Kay K; Sawyer, Susanna S; Posth, Cosimo C; Haak, Wolfgang W; Hallgren, Fredrik F; Fornander, Elin E; Rohland, Nadin N; Delsate, Dominique D; Francken, Michael M; Guinet, Jean-Michel JM; Wahl, Joachim J; Ayodo, George G; Babiker, Hamza A HA; Bailliet, Graciela G; Balanovska, Elena E; Balanovsky, Oleg O; Barrantes, Ramiro R; Bedoya, Gabriel G; Ben-Ami, Haim H; Bene, Judit J; Berrada, Fouad F; Bravi, Claudio M CM; Brisighelli, Francesca F; Busby, George B J GB; Cali, Francesco F; Churnosov, Mikhail M; Cole, David E C DE; Corach, Daniel D; Damba, Larissa L; van Driem, George G; Dryomov, Stanislav S; Dugoujon, Jean-Michel JM; Fedorova, Sardana A SA; Gallego Romero, Irene I; Gubina, Marina M; Hammer, Michael M; Henn, Brenna M BM; Hervig, Tor T; Hodoglugil, Ugur U; Jha, Aashish R AR; Karachanak-Yankova, Sena S; Khusainova, Rita R; Khusnutdinova, Elza E; Kittles, Rick R; Kivisild, Toomas T; Klitz, William W; Kučinskas, Vaidutis V; Kushniarevich, Alena A; Laredj, Leila L; Litvinov, Sergey S; Loukidis, Theologos T; Mahley, Robert W RW; Melegh, Béla B; Metspalu, Ene E; Molina, Julio J; Mountain, Joanna J; Näkkäläjärvi, Klemetti K; Nesheva, Desislava D; Nyambo, Thomas T; Osipova, Ludmila L; Parik, Jüri J; Platonov, Fedor F; Posukh, Olga O; Romano, Valentino V; Rothhammer, Francisco F; Rudan, Igor I; Ruizbakiev, Ruslan R; Sahakyan, Hovhannes H; Sajantila, Antti A; Salas, Antonio A; Starikovskaya, Elena B EB; Tarekegn, Ayele A; Toncheva, Draga D; Turdikulova, Shahlo S; Uktveryte, Ingrida I; Utevska, Olga O; Vasquez, René R; Villena, Mercedes M; Voevoda, Mikhail M; Winkler, Cheryl A CA; Yepiskoposyan, Levon L; Zalloua, Pierre P; Zemunik, Tatijana T; Cooper, Alan A; Capelli, Cristian C; Thomas, Mark G MG; Ruiz-Linares, Andres A; Tishkoff, Sarah A SA; Singh, Lalji L; Thangaraj, Kumarasamy K; Villems, Richard R; Comas, David D; Sukernik, Rem R; Metspalu, Mait M; Meyer, Matthias M; Eichler, Evan E EE; Burger, Joachim J; Slatkin, Montgomery M; Pääbo, Svante S; Kelso, Janet J; Reich, David D; Krause, Johannes J
An analysis of genetic factors related to risk of inflammatory bowel disease and colon cancer.
Cancer Epidemiology
Ryan, Bríd M BM; Wolff, Roger K RK; Valeri, Nicola N; Khan, Mohammed M; Robinson, Dillon D; Paone, Alessio A; Bowman, Elise D ED; Lundgreen, Abbie A; Caan, Bette B; Potter, John J; Brown, Derek D; Croce, Carlo C; Slattery, Martha L ML; Harris, Curtis C CC
A global view of the OCA2-HERC2 region and pigmentation.
Human Genetics
Donnelly, Michael P MP; Paschou, Peristera P; Grigorenko, Elena E; Gurwitz, David D; Barta, Csaba C; Lu, Ru-Band RB; Zhukova, Olga V OV; Kim, Jong-Jin JJ; Siniscalco, Marcello M; New, Maria M; Li, Hui H; Kajuna, Sylvester L B SL; Manolopoulos, Vangelis G VG; Speed, William C WC; Pakstis, Andrew J AJ; Kidd, Judith R JR; Kidd, Kenneth K KK
Model-based prediction of human hair color using DNA variants.
Human Genetics
Branicki, Wojciech W; Liu, Fan F; van Duijn, Kate K; Draus-Barini, Jolanta J; Pośpiech, Ewelina E; Walsh, Susan S; Kupiec, Tomasz T; Wojas-Pelc, Anna A; Kayser, Manfred M
Comparative genetic analysis of inflammatory bowel disease and type 1 diabetes implicates multiple loci with opposite effects.
Human Molecular Genetics
Wang, Kai K; Baldassano, Robert R; Zhang, Haitao H; Qu, Hui-Qi HQ; Imielinski, Marcin M; Kugathasan, Subra S; Annese, Vito V; Dubinsky, Marla M; Rotter, Jerome I JI; Russell, Richard K RK; Bradfield, Jonathan P JP; Sleiman, Patrick M A PM; Glessner, Joseph T JT; Walters, Thomas T; Hou, Cuiping C; Kim, Cecilia C; Frackelton, Edward C EC; Garris, Maria M; Doran, James J; Romano, Claudio C; Catassi, Carlo C; Van Limbergen, Johan J; Guthery, Stephen L SL; Denson, Lee L; Piccoli, David D; Silverberg, Mark S MS; Stanley, Charles A CA; Monos, Dimitri D; Wilson, David C DC; Griffiths, Anne A; Grant, Struan F A SF; Satsangi, Jack J; Polychronakos, Constantin C; Hakonarson, Hakon H
Investigation of Crohn's disease risk loci in ulcerative colitis further defines their molecular relationship.
Gastroenterology
Anderson, Carl A CA; Massey, Dunecan C O DC; Barrett, Jeffrey C JC; Prescott, Natalie J NJ; Tremelling, Mark M; Fisher, Sheila A SA; Gwilliam, Rhian R; Jacob, Jemima J; Nimmo, Elaine R ER; Drummond, Hazel H; Lees, Charlie W CW; Onnie, Clive M CM; Hanson, Catherine C; Blaszczyk, Katarzyna K; Ravindrarajah, Radhi R; Hunt, Sarah S; Varma, Dhiraj D; Hammond, Naomi N; Lewis, Gregory G; Attlesey, Heather H; Watkins, Nick N; Ouwehand, Willem W; Strachan, David D; McArdle, Wendy W; Lewis, Cathryn M CM; , ; Lobo, Alan A; Sanderson, Jeremy J; Jewell, Derek P DP; Deloukas, Panos P; Mansfield, John C JC; Mathew, Christopher G CG; Satsangi, Jack J; Parkes, Miles M
A genome-wide association study identifies novel alleles associated with hair color and skin pigmentation.
Plos Genetics
Han, Jiali J; Kraft, Peter P; Nan, Hongmei H; Guo, Qun Q; Chen, Constance C; Qureshi, Abrar A; Hankinson, Susan E SE; Hu, Frank B FB; Duffy, David L DL; Zhao, Zhen Zhen ZZ; Martin, Nicholas G NG; Montgomery, Grant W GW; Hayward, Nicholas K NK; Thomas, Gilles G; Hoover, Robert N RN; Chanock, Stephen S; Hunter, David J DJ
A single SNP in an evolutionary conserved region within intron 86 of the HERC2 gene determines human blue-brown eye color.
American Journal Of Human Genetics
Sturm, Richard A RA; Duffy, David L DL; Zhao, Zhen Zhen ZZ; Leite, Fabio P N FP; Stark, Mitchell S MS; Hayward, Nicholas K NK; Martin, Nicholas G NG; Montgomery, Grant W GW
Three genome-wide association studies and a linkage analysis identify HERC2 as a human iris color gene.
American Journal Of Human Genetics
Kayser, Manfred M; Liu, Fan F; Janssens, A Cecile J W AC; Rivadeneira, Fernando F; Lao, Oscar O; van Duijn, Kate K; Vermeulen, Mark M; Arp, Pascal P; Jhamai, Mila M MM; van Ijcken, Wilfred F J WF; den Dunnen, Johan T JT; Heath, Simon S; Zelenika, Diana D; Despriet, Dominiek D G DD; Klaver, Caroline C W CC; Vingerling, Johannes R JR; de Jong, Paulus T V M PT; Hofman, Albert A; Aulchenko, Yurii S YS; Uitterlinden, Andre G AG; Oostra, Ben A BA; van Duijn, Cornelia M CM