TY  - JOUR
A1  - Van Hout, Cristopher V.
A1  - Tachmazidou, Ioanna
A1  - Backman, Joshua D.
A1  - Hoffman, Joshua D.
A1  - Liu, Daren
A1  - Pandey, Ashutosh K.
A1  - Gonzaga-Jauregui, Claudia
A1  - Khalid, Shareef
A1  - Ye, Bin
A1  - Banerjee, Nilanjana
A1  - Li, Alexander H.
A1  - O'Dushlaine, Colm
A1  - Marcketta, Anthony
A1  - Staples, Jeffrey
A1  - Schurmann, Claudia
A1  - Hawes, Alicia
A1  - Maxwell, Evan
A1  - Barnard, Leland
A1  - Lopez, Alexander
A1  - Penn, John
A1  - Habegger, Lukas
A1  - Blumenfeld, Andrew L.
A1  - Bai, Xiaodong
A1  - O'Keeffe, Sean
A1  - Yadav, Ashish
A1  - Praveen, Kavita
A1  - Jones, Marcus
A1  - Salerno, William J.
A1  - Chung, Wendy K.
A1  - Surakka, Ida
A1  - Willer, Cristen J.
A1  - Hveem, Kristian
A1  - Leader, Joseph B.
A1  - Carey, David J.
A1  - Ledbetter, David H.
A1  - Cardon, Lon
A1  - Yancopoulos, George D.
A1  - Economides, Aris
A1  - Coppola, Giovanni
A1  - Shuldiner, Alan R.
A1  - Balasubramanian, Suganthi
A1  - Cantor, Michael
A1  - Nelson, Matthew R.
A1  - Whittaker, John
A1  - Reid, Jeffrey G.
A1  - Marchini, Jonathan
A1  - Overton, John D.
A1  - Scott, Robert A.
A1  - Abecasis, Goncalo R.
A1  - Yerges-Armstrong, Laura M.
A1  - Baras, Aris
T1  - Exome sequencing and characterization of 49,960 individuals in the UK Biobank
JF  - Nature : the international weekly journal of science
N2  - The UK Biobank is a prospective study of 502,543 individuals, combining extensive phenotypic and genotypic data with streamlined access for researchers around the world(1). Here we describe the release of exome-sequence data for the first 49,960 study participants, revealing approximately 4 million coding variants (of which around 98.6% have a frequency of less than 1%). The data include 198,269 autosomal predicted loss-of-function (LOF) variants, a more than 14-fold increase compared to the imputed sequence. Nearly all genes (more than 97%) had at least one carrier with a LOF variant, and most genes (more than 69%) had at least ten carriers with a LOF variant. We illustrate the power of characterizing LOF variants in this population through association analyses across 1,730 phenotypes. In addition to replicating established associations, we found novel LOF variants with large effects on disease traits, includingPIEZO1on varicose veins,COL6A1on corneal resistance,MEPEon bone density, andIQGAP2andGMPRon blood cell traits. We further demonstrate the value of exome sequencing by surveying the prevalence of pathogenic variants of clinical importance, and show that 2% of this population has a medically actionable variant. Furthermore, we characterize the penetrance of cancer in carriers of pathogenicBRCA1andBRCA2variants. Exome sequences from the first 49,960 participants highlight the promise of genome sequencing in large population-based studies and are now accessible to the scientific community. <br /> Exome sequences from the first 49,960 participants in the UK Biobank highlight the promise of genome sequencing in large population-based studies and are now accessible to the scientific community.
KW  - clinical exome
KW  - breast-cancer
KW  - mutations
KW  - recommendations
KW  - gene
KW  - metaanalysis
KW  - variants,
KW  - BRCA1
KW  - risk
KW  - susceptibility
Y1  - 2020
U6  - https://doi.org/10.1038/s41586-020-2853-0
SN  - 0028-0836
SN  - 1476-4687
VL  - 586
IS  - 7831
SP  - 749
EP  - 756
PB  - Macmillan Publishers Limited
CY  - London
ER  - 
TY  - JOUR
A1  - Mantzouki, Evanthia
A1  - Campbell, James
A1  - van Loon, Emiel
A1  - Visser, Petra
A1  - Konstantinou, Iosif
A1  - Antoniou, Maria
A1  - Giuliani, Gregory
A1  - Machado-Vieira, Danielle
A1  - de Oliveira, Alinne Gurjao
A1  - Maronic, Dubravka Spoljaric
A1  - Stevic, Filip
A1  - Pfeiffer, Tanja Zuna
A1  - Vucelic, Itana Bokan
A1  - Zutinic, Petar
A1  - Udovic, Marija Gligora
A1  - Plenkovic-Moraj, Andelka
A1  - Tsiarta, Nikoletta
A1  - Blaha, Ludek
A1  - Geris, Rodan
A1  - Frankova, Marketa
A1  - Christoffersen, Kirsten Seestern
A1  - Warming, Trine Perlt
A1  - Feldmann, Tonu
A1  - Laas, Alo
A1  - Panksep, Kristel
A1  - Tuvikene, Lea
A1  - Kangro, Kersti
A1  - Haggqvist, Kerstin
A1  - Salmi, Pauliina
A1  - Arvola, Lauri
A1  - Fastner, Jutta
A1  - Straile, Dietmar
A1  - Rothhaupt, Karl-Otto
A1  - Fonvielle, Jeremy Andre
A1  - Grossart, Hans-Peter
A1  - Avagianos, Christos
A1  - Kaloudis, Triantafyllos
A1  - Triantis, Theodoros
A1  - Zervou, Sevasti-Kiriaki
A1  - Hiskia, Anastasia
A1  - Gkelis, Spyros
A1  - Panou, Manthos
A1  - McCarthy, Valerie
A1  - Perello, Victor C.
A1  - Obertegger, Ulrike
A1  - Boscaini, Adriano
A1  - Flaim, Giovanna
A1  - Salmaso, Nico
A1  - Cerasino, Leonardo
A1  - Koreiviene, Judita
A1  - Karosiene, Jurate
A1  - Kasperoviciene, Jurate
A1  - Savadova, Ksenija
A1  - Vitonyte, Irma
A1  - Haande, Sigrid
A1  - Skjelbred, Birger
A1  - Grabowska, Magdalena
A1  - Karpowicz, Maciej
A1  - Chmura, Damian
A1  - Nawrocka, Lidia
A1  - Kobos, Justyna
A1  - Mazur-Marzec, Hanna
A1  - Alcaraz-Parraga, Pablo
A1  - Wilk-Wozniak, Elzbieta
A1  - Krzton, Wojciech
A1  - Walusiak, Edward
A1  - Gagala, Ilona
A1  - Mankiewicz-Boczek, Joana
A1  - Toporowska, Magdalena
A1  - Pawlik-Skowronska, Barbara
A1  - Niedzwiecki, Michal
A1  - Peczula, Wojciech
A1  - Napiorkowska-Krzebietke, Agnieszka
A1  - Dunalska, Julita
A1  - Sienska, Justyna
A1  - Szymanski, Daniel
A1  - Kruk, Marek
A1  - Budzynska, Agnieszka
A1  - Goldyn, Ryszard
A1  - Kozak, Anna
A1  - Rosinska, Joanna
A1  - Szelag-Wasielewska, Elzbieta
A1  - Domek, Piotr
A1  - Jakubowska-Krepska, Natalia
A1  - Kwasizur, Kinga
A1  - Messyasz, Beata
A1  - Pelechata, Aleksandra
A1  - Pelechaty, Mariusz
A1  - Kokocinski, Mikolaj
A1  - Madrecka, Beata
A1  - Kostrzewska-Szlakowska, Iwona
A1  - Frak, Magdalena
A1  - Bankowska-Sobczak, Agnieszka
A1  - Wasilewicz, Michal
A1  - Ochocka, Agnieszka
A1  - Pasztaleniec, Agnieszka
A1  - Jasser, Iwona
A1  - Antao-Geraldes, Ana M.
A1  - Leira, Manel
A1  - Hernandez, Armand
A1  - Vasconcelos, Vitor
A1  - Morais, Joao
A1  - Vale, Micaela
A1  - Raposeiro, Pedro M.
A1  - Goncalves, Vitor
A1  - Aleksovski, Boris
A1  - Krstic, Svetislav
A1  - Nemova, Hana
A1  - Drastichova, Iveta
A1  - Chomova, Lucia
A1  - Remec-Rekar, Spela
A1  - Elersek, Tina
A1  - Delgado-Martin, Jordi
A1  - Garcia, David
A1  - Luis Cereijo, Jose
A1  - Goma, Joan
A1  - Carmen Trapote, Mari
A1  - Vegas-Vilarrubia, Teresa
A1  - Obrador, Biel
A1  - Garcia-Murcia, Ana
A1  - Real, Monserrat
A1  - Romans, Elvira
A1  - Noguero-Ribes, Jordi
A1  - Parreno Duque, David
A1  - Fernandez-Moran, Elisabeth
A1  - Ubeda, Barbara
A1  - Angel Galvez, Jose
A1  - Marce, Rafael
A1  - Catalan, Nuria
A1  - Perez-Martinez, Carmen
A1  - Ramos-Rodriguez, Eloisa
A1  - Cillero-Castro, Carmen
A1  - Moreno-Ostos, Enrique
A1  - Maria Blanco, Jose
A1  - Rodriguez, Valeriano
A1  - Juan Montes-Perez, Jorge
A1  - Palomino, Roberto L.
A1  - Rodriguez-Perez, Estela
A1  - Carballeira, Rafael
A1  - Camacho, Antonio
A1  - Picazo, Antonio
A1  - Rochera, Carlos
A1  - Santamans, Anna C.
A1  - Ferriol, Carmen
A1  - Romo, Susana
A1  - Soria, Juan Miguel
A1  - Hansson, Lars-Anders
A1  - Urrutia-Cordero, Pablo
A1  - Ozen, Arda
A1  - Bravo, Andrea G.
A1  - Buck, Moritz
A1  - Colom-Montero, William
A1  - Mustonen, Kristiina
A1  - Pierson, Don
A1  - Yang, Yang
A1  - Verspagen, Jolanda M. H.
A1  - Domis, Lisette N. de Senerpont
A1  - Seelen, Laura
A1  - Teurlincx, Sven
A1  - Verstijnen, Yvon
A1  - Lurling, Miquel
A1  - Maliaka, Valentini
A1  - Faassen, Elisabeth J.
A1  - Latour, Delphine
A1  - Carey, Cayelan C.
A1  - Paerl, Hans W.
A1  - Torokne, Andrea
A1  - Karan, Tunay
A1  - Demir, Nilsun
A1  - Beklioglu, Meryem
A1  - Filiz, Nur
A1  - Levi, Eti E.
A1  - Iskin, Ugur
A1  - Bezirci, Gizem
A1  - Tavsanoglu, Ulku Nihan
A1  - Celik, Kemal
A1  - Ozhan, Koray
A1  - Karakaya, Nusret
A1  - Kocer, Mehmet Ali Turan
A1  - Yilmaz, Mete
A1  - Maraslioglu, Faruk
A1  - Fakioglu, Ozden
A1  - Soylu, Elif Neyran
A1  - Yagci, Meral Apaydin
A1  - Cinar, Sakir
A1  - Capkin, Kadir
A1  - Yagci, Abdulkadir
A1  - Cesur, Mehmet
A1  - Bilgin, Fuat
A1  - Bulut, Cafer
A1  - Uysal, Rahmi
A1  - Koker, Latife
A1  - Akcaalan, Reyhan
A1  - Albay, Meric
A1  - Alp, Mehmet Tahir
A1  - Ozkan, Korhan
A1  - Sevindik, Tugba Ongun
A1  - Tunca, Hatice
A1  - Onem, Burcin
A1  - Richardson, Jessica
A1  - Edwards, Christine
A1  - Bergkemper, Victoria
A1  - Beirne, Eilish
A1  - Cromie, Hannah
A1  - Ibelings, Bastiaan W.
T1  - Data Descriptor: A European Multi Lake Survey dataset of environmental variables, phytoplankton pigments and cyanotoxins
JF  - Scientific Data
N2  - Under ongoing climate change and increasing anthropogenic activity, which continuously challenge ecosystem resilience, an in-depth understanding of ecological processes is urgently needed. Lakes, as providers of numerous ecosystem services, face multiple stressors that threaten their functioning. Harmful cyanobacterial blooms are a persistent problem resulting from nutrient pollution and climate-change induced stressors, like poor transparency, increased water temperature and enhanced stratification. Consistency in data collection and analysis methods is necessary to achieve fully comparable datasets and for statistical validity, avoiding issues linked to disparate data sources. The European Multi Lake Survey (EMLS) in summer 2015 was an initiative among scientists from 27 countries to collect and analyse lake physical, chemical and biological variables in a fully standardized manner. This database includes in-situ lake variables along with nutrient, pigment and cyanotoxin data of 369 lakes in Europe, which were centrally analysed in dedicated laboratories. Publishing the EMLS methods and dataset might inspire similar initiatives to study across large geographic areas that will contribute to better understanding lake responses in a changing environment.
KW  - Climate-change ecology
KW  - Limnology
KW  - Water resources
Y1  - 2018
U6  - https://doi.org/10.1038/sdata.2018.226
SN  - 2052-4463
VL  - 5
PB  - Nature Publ. Group
CY  - London
ER  -