977 research outputs found
Tone Language Fluency Impairs Pitch Discrimination
- Publication venue
- Frontiers Research Foundation
- Publication date
- 01/01/2011
- Field of study
Here we present evidence that native speakers of a tone language, in which pitch contributes to word meaning, are impaired in the discrimination of falling pitches in tone sequences, as compared to speakers of a non-tone language. Both groups were presented with monotonic and isochronous sequences of five tones (i.e., constant pitch and intertone interval). They were required to detect when the fourth tone was displaced in pitch or time. While speakers of a tone language performed more poorly in the detection of downward pitch changes, they did not differ from non-tone language speakers in their perception of upward pitch changes or in their perception of subtle time changes. Moreover, this impairment cannot be attributed to poor musical abilities since the impairment remains unchanged when individual differences in musical pitch-based processing is taken into account. Thus, the impairment appears highly specific and may reflect the influence of statistical regularities of tone languages
Toward food sovereignty for coastal communities of eastern Québec : co-designing a website to support consumption of edible resources from the St. Lawrence River, Estuary, and Gulf
- Author
- Publication venue
- 'SAGE Publications'
- Publication date
- 23/04/2022
- Field of study
Background. Despite the abundance and proximity of edible marine resources, coastal communities along the St. Lawrence in Eastern Québec rarely consume these resources. Within a community-based food sovereignty project, Manger notre Saint-Laurent (‘‘Sustenance from our St. Lawrence''), members of participating communities (3 nonIndigenous, 1 Indigenous) identified a need for a web-based decision tool to help make informed consumption choices. Methods. We thus aimed to co-design a prototype website that facilitates informed choices about consuming local edible marine resources based on seasonal and regional availability, food safety, nutrition, and sustainability, with community members, regional stakeholders, and experts in user experience design and web development. We conducted 48 interviews with a variety of people over 3 iterative cycles, assessing the prototype's ease of use with a validated measure, the System Usability Scale. Results. Community members, regional stakeholders, and other experts identified problematic elements in initial versions of the website (e.g., confusing symbols). We resolved issues and added features people identified as useful. Usability scores reached ‘‘best imaginable'' for both the second and the third versions and did not differ significantly between sociodemographic groups. The final prototype includes a tool to explore each species and index cards to regroup accurate evidence relevant to each species. Conclusions. Engaging co-designers with different sociodemographic characteristics brought together a variety of perspectives. Several components would not have been included without co-designers' input; other components were greatly improved thanks to their feedback. Co-design approaches in research and intervention development are preferable to foster the inclusion of a variety of people. Once the prototype is programmed and available online, we hope to evaluate the website to determine its effects on food choices
Return of individual research results from genomic research: A systematic review of stakeholder perspectives.
- Author
- Publication venue
- PLoS One
- Publication date
- 01/01/2021
- Field of study
Funder: Franca FundFunder: Canada Research Chair in Law and MedicineFunder: Canada Institute of Health ResearchFunder: Genome QuebecFunder: Genome CanadaFunder: Can-SHARE ConnectFunder: CIHRDespite the plethora of empirical studies conducted to date, debate continues about whether and to what extent results should be returned to participants of genomic research. We aimed to systematically review the empirical literature exploring stakeholders' perspectives on return of individual research results (IRR) from genomic research. We examined preferences for receiving or willingness to return IRR, and experiences with either receiving or returning them. The systematic searches were conducted across five major databases in August 2018 and repeated in April 2020, and included studies reporting findings from primary research regardless of method (quantitative, qualitative, mixed). Articles that related to the clinical setting were excluded. Our search identified 221 articles that met our search criteria. This included 118 quantitative, 69 qualitative and 34 mixed methods studies. These articles included a total number of 118,874 stakeholders with research participants (85,270/72%) and members of the general public (40,967/35%) being the largest groups represented. The articles spanned at least 22 different countries with most (144/65%) being from the USA. Most (76%) discussed clinical research projects, rather than biobanks. More than half (58%) gauged views that were hypothetical. We found overwhelming evidence of high interest in return of IRR from potential and actual genomic research participants. There is also a general willingness to provide such results by researchers and health professionals, although they tend to adopt a more cautious stance. While all results are desired to some degree, those that have the potential to change clinical management are generally prioritized by all stakeholders. Professional stakeholders appear more willing to return results that are reliable and clinically relevant than those that are less reliable and lack clinical relevance. The lack of evidence for significant enduring psychological harm and the clear benefits to some research participants suggest that researchers should be returning actionable IRRs to participants
Evaluation of RTS,S/AS02A and RTS,S/AS01B in Adults in a High Malaria Transmission Area
- Author
- Apollo Stella
- Ballou W. Ripley
- Cahill Conor P.
- Cohen Joe
- Cummings James F.
- Demoitie Marie-Ange
- Dubois Marie-Claude
- Heppner , D. Gray
- Kester Kent E.
- Leach Amanda
- Lievens Marc
- Ockenhouse Christian F.
- Ofori-Anyinam Opokua
- Ogutu Bernhards R.
- Otieno Lucas
- Polhemus Mark E.
- Ramboer Isabelle
- Remich Shon A.
- Stewart Ann
- Waitumbi John N.
- Publication venue
- Public Library of Science
- Publication date
- 01/01/2009
- Field of study
This study advances the clinical development of the RTS,S/AS01B candidate malaria vaccine to malaria endemic populations. As a primary objective it compares the safety and reactogenicity of RTS,S/AS01B to the more extensively evaluated RTS,S/AS02A vaccine.A Phase IIb, single centre, double-blind, controlled trial of 6 months duration with a subsequent 6 month single-blind follow-up conducted in Kisumu West District, Kenya between August 2005 and August 2006. 255 healthy adults aged 18 to 35 years were randomized (1ratio1ratio1) to receive 3 doses of RTS,S/AS02A, RTS,S/AS01B or rabies vaccine (Rabipur; Chiron Behring GmbH) at months 0, 1, 2. The primary objective was the occurrence of severe (grade 3) solicited or unsolicited general (i.e. systemic) adverse events (AEs) during 7 days follow up after each vaccination.Both candidate vaccines had a good safety profile and were well tolerated. One grade 3 systemic AE occurred within 7 days of vaccination (RTS,S/AS01B group). No unsolicited AEs or SAEs were related to vaccine. A marked increase in anti-CS antibody GMTs was observed post Dose 2 of both RTS,S/AS01B (31.6 EU/mL [95% CI: 23.9 to 41.6]) and RTS,S/AS02A (16.7 EU/mL [95% CI: 12.9 to 21.7]). A further increase was observed post Dose 3 in both the RTS,S/AS01B (41.4 EU/mL [95% CI: 31.7 to 54.2]) and RTS,S/AS02A (21.4 EU/mL [95% CI: 16.0 to 28.7]) groups. Anti-CS antibody GMTs were significantly greater with RTS,S/AS01B compared to RTS,S/AS02A at all time points post Dose 2 and Dose 3. Both candidate vaccines produced strong anti-HBs responses. Vaccine efficacy in the RTS,S/AS01B group was 29.5% (95% CI: -15.4 to 56.9, p = 0.164) and in the RTS,S/AS02A group 31.7% (95% CI: -11.6 to 58.2, p = 0.128).Both candidate malaria vaccines were well tolerated over a 12 month surveillance period. A more favorable immunogenicity profile was observed with RTS,S/AS01B than with RTS,S/AS02A.Clinicaltrials.gov NCT00197054
Recent Cases
- Author
- Bolgiano John H.
- Cappello Isabelle R.
- Carroll James F.
- Cummings Joseph D.
- Dolan Mary A.
- Dullea Mary A.
- Flanagan Daniel J.
- Jehle Philip F.
- Kamenjar William B.
- Kean Alan E.
- Lothschuetz John M.
- Marinucci Louis J.
- McGean Donald C.
- McKnew Della K.
- Morano Carl J.
- O\u27Shea John J. C.
- Opsasnick Stephen
- Rozier Anne Carlisle
- Wasnick John
- Zarella Dominic F.
- Publication venue
- CUA Law Scholarship Repository
- Publication date
- 01/01/1951
- Field of study
Meat, eggs, dairy products, and risk of breast cancer in the European Prospective Investigation into Cancer and Nutrition (EPIC) cohort
- Author
- Androniki Naska
- Anja Olsen
- Anne Tjønneland
- Annika Steffen
- Antonia Trichopoulou
- Armstrong
- Balsari
- Bingham
- Boeing
- Bohlscheid-Thomas
- Carla H van Gils
- Carlos Alberto Gonzalez Svatetz
- Carmen Navarro
- Cerhan
- Cho
- Claudia Agnoli
- Cochran
- Cross
- Cui
- Cummings
- Dagrun Engeset
- Dominique S Michaud
- Duncan
- Egeberg
- Eiliv Lund
- Elio Riboli
- Elisabet Wirfält
- Elizabeth Spencer
- EPIC Group of Spain
- Eva Ardanaz
- Ferrari
- Franceschi
- Franco Berrino
- Françoise Clavel-Chapelon
- Freudenheim
- Friedenreich
- Fränzel JB van Duijnhoven
- Fung
- Fung
- Fung
- Giovanna Masala
- Gonzalez
- Goodman
- Graham Byrnes
- Grambsch
- Gray
- Guri Skeie
- Göran Hallmans
- H Bas Bueno-de-Mesquita
- Haftenberger
- Heiner Boeing
- Hermann
- Hirohata
- Hirose
- Hjartaker
- Holmes
- Isabelle Romieu
- Iscovich
- Jakob Linseisen
- Jonas Manjer
- Kaaks
- Kaaks
- Kabat
- Kay-Tee Khaw
- Key
- Keys
- Kim Overvad
- Lauber
- Laudina Rodriguez
- Lichtenstein
- Linos
- Linos
- Maria-José Sánchez
- Marianne Uhre Jakobsen
- Marie-Christine Boutron-Ruault
- Missmer
- Mokbel
- Morales Suarez-Varela
- Ocke
- Paolo Vineis
- Per Lenner
- Petra HM Peeters
- Pietro Ferrari
- Pilar Amiano
- Pisani
- Prieto-Ramos
- Riboli
- Riboli
- Rohrmann
- Ronco
- Rosario Tumino
- Sabina Rinaldi
- Sabina Sieri
- Sabine Rohrmann
- Salvatore Panico
- Sara Grioni
- Shannon
- Sheila Bingham
- Shin
- Sieri
- Slimani
- Slimani
- Tajima
- Taylor
- Teresa Norat
- Thompson
- Timothy J Key
- Touillaud
- Tretli
- Valeria Pala
- van der Hel
- Vassiliki Benetou
- Vittorio Krogh
- Willett
- Wiseman
- Women’s Health Initiative
- World Cancer Research Fund/American Institute for Cancer Research
- Zhang
- Zheng
- Publication venue
- 'American Society for Nutrition'
- Publication date
- 01/01/2009
- Field of study
Background: A Western diet is associated with breast cancer risk. Objective: We investigated the relation of meat, egg, and dairy product consumption with breast cancer risk by using data from the European Prospective Investigation into Cancer and Nutrition (EPIC). Design: Between 1992 and 2003, information on diet was collected from 319,826 women. Disease hazard ratios were estimated with multivariate Cox proportional hazard models. Results: Breast cancer cases (n = 7119) were observed during 8.8 y (median) of follow-up. No consistent association was found between breast cancer risk and the consumption of any of the food groups under study, when analyzed by both categorical and continuous exposure variable models. High processed meat consumption was associated with a modest increase in breast cancer risk in the categorical model (hazard ratio: 1.10; 95% CI: 1.00, 1.20; highest compared with lowest quintile: P for trend = 0.07). Subgroup analyses suggested an association with butter consumption, limited to premenopausal women (hazard ratio: 1.28; 95% CI: 1.06, 1.53; highest compared with lowest quintile: P for trend = 0.21). Between-country heterogeneity was found for red meat (Q statistic = 18.03; P = 0.05) and was significantly explained (P = 0.023) by the proportion of meat cooked at high temperature. Conclusions: We have not consistently identified intakes of meat, eggs, or dairy products as risk factors for breast cancer. Future studies should investigate the possible role of high-temperature cooking in the relation of red meat intake with breast cancer risk. Am J Clin Nutr 2009;90:602-12
The FANCM:p.Arg658* truncating variant is associated with risk of triple-negative breast cancer
- Author
- Aalfs Cora M.
- Adank Muriel A.
- Adenis Claude
- Adlard Julian
- Agata Simona
- Aghmesheh Morteza
- Agnarsson Bjarni A.
- Ahearn Thomas
- Aittomäki Kristiina
- Ambrosone Christine B.
- Amor David
- Andrews Lesley
- Andrulis Irene L.
- Antill Yoland
- Anton-Culver Hoda
- Antonenkova Natalia N.
- Antoniou Antonis C.
- Armitage Shane
- Arndt Volker
- Arnold Leanne
- Arnold Norbert
- Aronson Kristan J.
- Arun Banu K.
- Asseryanis Ella
- Auber Bernd
- Auvinen Päivi
- Azzollini Jacopo
- Balleine Rosemary
- Balmaña Judith
- Barkardottir Rosa B.
- Barnes Daniel R.
- Barouk-Simonet Emmanuelle
- Barrowdale Daniel
- Barwell Julian
- Bastick Patti
- Baurand Amandine
- Baxter Robert
- Beane Freeman Laura E.
- Beauparlant Charles Joly
- Beckmann Matthias W.
- Beesley Jonathan
- Behrens Sabine
- Beilby John
- Belotti Muriel
- Benitez Javier
- Bennett Ian
- Berger Raanan
- Bermisheva Marina
- Berthet Pascaline
- Bertolone Geoffrey
- Bertrand Ophélie
- Bignon Yves-Jean
- Birot Anne-Marie
- Blackburn Anneke
- Blanco Amie M.
- Blomqvist Carl
- Bogdanova Natalia V.
- Bogliolo Massimo
- Bogwitz Michael
- Bojesen Anders
- Bojesen Stig E.
- Bolla Manjeet K.
- Bonadona Valérie
- Bonanni Bernardo
- Bonnet Françoise
- Borg Ake
- Botes Leon
- Bourdon Violaine
- Boutry-Kryza Nadia
- Brady Angela F.
- Brauch Hiltrud
- Braye Stephen
- Brennan Meagan
- Brenner Hermann
- Bressac-de-Paillerets Brigitte
- Bronner Myriam
- Brown Melissa
- Brüning Thomas
- Bubien Virginie
- Buckley Michael
- Buecher Bruno
- Burgess Matthew
- Burke Jo
- Burwinkel Barbara
- Butow Phyllis
- Buys Saundra S.
- Bézieau Stéphane
- Cadoo Karen
- Caldon Liz
- Caldés Trinidad
- Caleca Laura
- Calender Alain
- Caliebe Almuth
- Caligo Maria A.
- Callen David
- Campa Daniele
- Campbell Ian G.
- Canzian Federico
- Caputo Sandrine
- Caron Olivier
- Carpenter Jane
- Castelao Jose E.
- Castera Laurent
- Catucci Irene
- Chang-Claude Jenny
- Chanock Stephen J.
- Chauhan Deepa
- Chauhan Manisha
- Chenevix-Trench Georgia
- Chiesa Jean
- Christian Alice
- Chung Wendy K.
- Claes Kathleen B. M.
- Clarke Christine L.
- Cohen Paul
- Colas Chrystelle
- Collavoli Anita
- Colley Alison
- Collonge-Rame Marie-Agnès
- Conner Thomas A.
- Coron Fanny
- Couch Fergus J.
- Coulet Florence
- Coupier Isabelle
- Cox David G.
- Crook Ashley
- Cui James
- Culling Bronwyn
- Cummings Margaret
- Cybulski Cezary
- Czene Kamila
- Dahlstrom Jane
- Daly Mary B.
- Damette Alexandre
- Dawson Sarah-Jane
- de la Hoya Miguel
- de Pauw Antoine
- DeFazio Anna
- Delatycki Martin
- Delnatte Capucine
- Dennis Joe
- Devilee Peter
- Dickson Rebecca
- Diez Orland
- Ding Yuan Chun
- Dite Gillian S.
- Ditsch Nina
- Dixon Joanne
- Dobrovic Alexander
- Domchek Susan M.
- Dorfling Cecilia M.
- dos-Santos-Silva Isabel
- Dreyfus Hélène
- Dudding Tracy
- Dumont Aurélie
- Dunning Alison M.
- Dupré Anaïs
- Durda Katarzyna
- Dwek Miriam
- Dörk Thilo
- Easton Douglas F.
- Eccles Diana M.
- Edkins Ted
- Edwards Stacey
- Eisenbruch Maurice
- Ekici Arif B.
- Eliassen A. Heather
- Ellberg Carolina
- Eriksson Mikael
- Evans D. Gareth
- Faivre Laurence
- Farshid Gelareh
- Fasching Peter A.
- Feillel Viviane
- Fellows Andrew
- Fenton Georgina
- Fert-Ferrer Sandra
- Field Michael
- Figlioli Gisella
- Figueroa Jonine
- Flanagan James
- Flyger Henrik
- Fong Peter
- Forbes John
- Forrest Laura
- Fostira Florentia
- Foulkes William D.
- Fourme Emmanuelle
- Fox Stephen
- French Juliet
- Friebel Tara M.
- Friedlander Michael
- Friedman Eitan
- Gabrielson Marike
- Gaddam Pragna
- Gaff Clara
- Gago-Dominguez Manuela
- Gallego-Ortega David
- Gao Chi
- Gapstur Susan M.
- Garber Judy
- García-Closas Montserrat
- García-Sáenz José A.
- Gattas Mike
- Gaudet Mia M.
- Gauthier-Villars Marion
- Gayther Simon A.
- George Peter
- Gesta Paul
- Giles Graham G.
- Gill Grantley
- Giraud Sophie
- Gladieff Laurence
- Glendon Gord
- Godwin Andrew K.
- Goldberg Mark S.
- Goldgar David E.
- Golmard Lisa
- Greene Mark H.
- Greening Sian
- Guillaud-Bataille Marine
- Guimbaud Rosine
- Gutierrez-Barrera Angelica M.
- Guénel Pascal
- Haan Eric
- Haeberle Lothar
- Hahnen Eric
- Haiman Christopher A.
- Hall Per
- Hamann Ute
- Harrington Patricia A.
- Harris Marion
- Hart Stewart
- Hayward Nick
- Hein Alexander
- Heiniger Louise
- Heyworth Jane
- Hillemanns Peter
- Hollestelle Antoinette
- Hopper John L.
- Hosgood H. Dean
- Howell Anthony
- Hu Chunling
- Hulick Peter J.
- Hunt Clare
- Hunter David J.
- Håkansson Niclas
- Imyanitov Evgeny N.
- Ingster Olivier
- Isaacs Claudine
- Jacquot Caroline
- Jakimovska Milena
- Jakubowska Anna
- James Paul
- Janavicius Ramunas
- Janni Wolfgang
- Jenkins Mark
- John Esther M.
- Jones Michael E.
- Jung Audrey
- Kaaks Rudolf
- Karlan Beth Y.
- Kefford Rick
- Khusnutdinova Elza
- Kidd Alexa
- Kientz Caroline
- Kiiski Johanna I.
- Kirk Judy
- Kitahara Cari M.
- Koehler Jessica
- Kollias James
- Konstantopoulou Irene
- Koutros Stella
- Kraft Peter
- Lakhani Sunil
- Lallaoui Hakima
- Lambrechts Diether
- Lasheras Sandra Viz
- Lasset Christine
- Lazaro Conxi
- Le Marchand Loic
- Le Mentec Marine
- Lebrun Marine
- Lee C. Soon
- Legrand Clémentine
- Lejbkowicz Flavio
- Lejeune Sophie
- Leroux Christine Dominique
- Leslie Goska
- Lester Jenny
- Lesueur Fabienne
- Lilyquist Jenna
- Lindeman Geoff
- Lipton Lara
- Lizard Sarab
- Lobb Liz
- Longy Michel
- Loud Jennifer T.
- Lu Karen H.
- Luben Robert N.
- Lubinski Jan
- Lush Michael
- Léone Mélanie
- Mann Graham
- Mannermaa Arto
- Manoochehri Mehdi
- Manoukian Siranoush
- Manouvrier-Hanu Sylvie
- Margolin Sara
- Mari Véronique
- Marsh Deborah
- Martens John W. M.
- Maurer Tabea
- Mavroudis Dimitrios
- McGuffog Lesley
- McLachlan Sue Anne
- Mebirouk Noura
- Meindl Alfons
- Meiser Bettina
- Menon Usha
- Michailidou Kyriaki
- Miller Austin
- Milne Roger L.
- Molina-Gomes Denise
- Moncoutier Virginie
- Montagna Marco
- Morey Adrienne
- Mortemousque Isabelle
- Muller Danièle
- Muranen Taru A.
- Nathanson Katherine L.
- Neuhausen Susan L.
- Nevanlinna Heli
- Newman William G.
- Nguyen-Dumont Tu
- Nielsen Finn Cilius
- Nielsen Sarah
- Nightingale Sophie
- Nikitina-Zake Liene
- Noguchi Tetsuro
- Noguès Catherine
- Offit Kenneth
- Olah Edith
- Olopade Olufunmilayo I.
- Olshan Andrew F.
- Olson Janet E.
- Olsson Håkan
- Osorio Ana
- Ottini Laura
- O’Connell Shona
- O’Sullivan Sarah
- Pachter Nick
- Parsons Michael T.
- Pathmanathan Nirmala
- Patterson Briony
- Peissel Bernard
- Peixoto Ana
- Peterlongo Paolo
- Peto Julian
- Peysselon Magalie
- Pharoah Paul D. P.
- Phillips Kelly
- Pieper Ellen
- Plaseska-Karanfilska Dijana
- Pocza Timea
- Popovici Cornel
- Presneau Nadege
- Prieur Fabienne
- Pujana Miquel Angel
- Pujol Pascal
- Pujol Roser
- Punie Kevin
- Rack Brigitte
- Radice Paolo
- Ramus Susan J.
- Rantala Johanna
- Rashid Muhammad U.
- Rau-Murthy Rohini
- Rebischung Christine
- Remenieras Audrey
- Rennert Gad
- Rhenius Valerie
- Rickard Edwina
- Robinson Bridget
- Romero Atocha
- Rookus Matti A.
- Ross Eric A.
- Rossing Maria
- Rudaitis Vilius
- Ruebner Matthias
- Révillion Françoise
- Saleh Mona
- Salisbury Elizabeth
- Saloustros Emmanouil
- Sambrook Joe
- Sanden Kristin
- Santamariña Marta
- Saule Claire
- Saunders Christobel
- Saunus Jodi
- Scheuner Maren T.
- Schmidt Marjanka K.
- Schmutzler Rita K.
- Schneider Michael
- Scott Christopher
- Scott Clare
- Scott Elizabeth
- Scott Rodney
- Senter Leigha
- Sevenet Nicolas
- Sexton Adrienne
- Shah Mitul
- Sharma Priyanka
- Shelling Andrew
- Shu Xiao-Ou
- Simard Jacques
- Simpson Peter
- Singer Christian F.
- Sobol Hagay
- Sohn Christof
- Sokolowska Johanna
- Soubrier Florent
- Soucy Penny
- Southey Melissa C.
- Spigelman Allan
- Spinelli John J.
- Spurdle Amanda
- Steele Linda
- Stoppa-Lyonnet Dominique
- Surrallés Jordi
- Swerdlow Anthony J.
- Tapper William J.
- Taylor Jessica
- Teixeira Manuel R.
- Terry Mary Beth
- Thomassen Mads
- Thompson Jennifer
- Thorne Heather
- Thull Darcy L.
- Tischkowitz Marc
- Toland Amanda E.
- Tollenaar Rob A.E.M.
- Torres Diana
- Toulas Christine
- Trainer Alison
- Troester Melissa A.
- Truong Thérèse
- Tucker Kathy
- Tung Nadine
- Uhrhammer Nancy
- Untch Michael
- Vachon Celine M.
- van Rensburg Elizabeth J.
- van Veen Elke M.
- Vaur Dominique
- Vega Ana
- Viel Alessandra
- Visvader Jane
- Vénat-Bouvet Laurence
- Walker Logan
- Wang Qin
- Wappenschmidt Barbara
- Warcoin Mathilde
- Weitzel Jeffrey N.
- Wendt Camilla
- Wieme Greet
- Wilcken Nicholas
- Williams Rachael
- Winship Ingrid
- Wolk Alicja
- Yang Xiaohong R.
- Yip Desmond
- Young Mary Ann
- Zeps Nikolajs
- Zheng Wei
- Ziogas Argyrios
- Zorn Kristin K.
- Publication venue
- npj Breast Cancer
- Publication date
- 01/01/2019
- Field of study
Abstract: Breast cancer is a common disease partially caused by genetic risk factors. Germline pathogenic variants in DNA repair genes BRCA1, BRCA2, PALB2, ATM, and CHEK2 are associated with breast cancer risk. FANCM, which encodes for a DNA translocase, has been proposed as a breast cancer predisposition gene, with greater effects for the ER-negative and triple-negative breast cancer (TNBC) subtypes. We tested the three recurrent protein-truncating variants FANCM:p.Arg658*, p.Gln1701*, and p.Arg1931* for association with breast cancer risk in 67,112 cases, 53,766 controls, and 26,662 carriers of pathogenic variants of BRCA1 or BRCA2. These three variants were also studied functionally by measuring survival and chromosome fragility in FANCM−/− patient-derived immortalized fibroblasts treated with diepoxybutane or olaparib. We observed that FANCM:p.Arg658* was associated with increased risk of ER-negative disease and TNBC (OR = 2.44, P = 0.034 and OR = 3.79; P = 0.009, respectively). In a country-restricted analysis, we confirmed the associations detected for FANCM:p.Arg658* and found that also FANCM:p.Arg1931* was associated with ER-negative breast cancer risk (OR = 1.96; P = 0.006). The functional results indicated that all three variants were deleterious affecting cell survival and chromosome stability with FANCM:p.Arg658* causing more severe phenotypes. In conclusion, we confirmed that the two rare FANCM deleterious variants p.Arg658* and p.Arg1931* are risk factors for ER-negative and TNBC subtypes. Overall our data suggest that the effect of truncating variants on breast cancer risk may depend on their position in the gene. Cell sensitivity to olaparib exposure, identifies a possible therapeutic option to treat FANCM-associated tumors
Search for dark matter produced in association with bottom or top quarks in √s = 13 TeV pp collisions with the ATLAS detector
- Author
- Aaboud Morad
- Aad Georges
- Abbott Brad
- Abdinov Ovsat
- Abeloos Baptiste
- Abidi Syed
- AbouZeid Ossama
- Abraham Nicola
- Abramowicz Halina
- Abreu Henso
- Abreu Ricardo
- Abulaiti Yiming
- Acharya Bobby
- Adachi Shunsuke
- Adamczyk Leszek
- Adelman Jahred
- Adersberger Michael
- Adye Tim
- Affolder Tony
- Afik Yoav
- Agatonovic-Jovin Tatjana
- Agheorghiesei Catalin
- Aguilar-Saavedra Juan
- Ahlen Steven
- Ahmadov Faig
- Aielli Giulio
- Akatsuka Shunichi
- Akerstedt Henrik
- Akilli Ece
- Akimov Andrei
- Alberghi Gian
- Albert Justin
- Albicocco Pietro
- Alconada Verzini Maria
- Alderweireldt Sara
- Aleksa Martin
- Aleksandrov Igor
- Alexa Calin
- Alexander Gideon
- Alexopoulos Theodoros
- Alhroob Muhammad
- Ali Babar
- Aliev Malik
- Alimonti Gianluca
- Alison John
- Alkire Steven
- Allbrooke Benedict
- Allen Benjamin
- Allport Phillip
- Aloisio Alberto
- Alonso Alejandro
- Alonso Francisco
- Alpigiani Cristiano
- Alshehri Azzah
- Alstaty Mahmoud
- Alvarez Gonzalez Barbara
- Alviggi Mariagrazia
- Amadio Brian
- Amaral Coutinho Yara
- Amelung Christoph
- Amidei Dante
- Amor Dos Santos Susana
- Amoroso Simone
- Anastopoulos Christos
- Ancu Lucian
- Andari Nansi
- Andeen Timothy
- Anders Christoph
- Anders John
- Anderson Kelby
- Andreazza Attilio
- Andrei George
- Angelidakis Stylianos
- Angelozzi Ivan
- Angerami Aaron
- Anisenkov Alexey
- Anjos Nuno
- Annovi Alberto
- Antel Claire
- Antonelli Mario
- Antonov Alexey
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- Da Cunha Sargedas De Sousa Mario
- Da Via Cinzia
- Dabrowski Wladyslaw
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- Dassoulas James
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- de Asmundis Riccardo
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- De Castro Stefano
- De Cecco Sandro
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- De la Torre Hector
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- De Maria Antonio
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- De Vasconcelos Corga Kevin
- De Vivie De Regie Jean-Baptiste
- De Kaushik
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- della Volpe Domenico
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- Di Ciaccio Lucia
- Di Clemente William
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- Di Girolamo Beniamino
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- Drechsler Eric
- Dris Manolis
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- Dubinin Filipp
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- Duschinger Dirk
- Dutta Baishali
- Duvnjak Damir
- Dyndal Mateusz
- Dziedzic Bartosz
- Díez Cornell Sergio
- Dührssen Michael
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- Eckardt Christoph
- Ecker Katharina
- Edgar Ryan
- Eifert Till
- Eigen Gerald
- Einsweiler Kevin
- Ekelof Tord
- El Kacimi Mohamed
- El Kosseifi Rima
- Ellajosyula Venugopal
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- Elles Sabine
- Ellinghaus Frank
- Elliot Alison
- Ellis Nicolas
- Elmsheuser Johannes
- Elsing Markus
- Emeliyanov Dmitry
- Enari Yuji
- Ennis Joseph
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- Ernst Michael
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- Escalier Marc
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- Etzion Erez
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- Ezhilov Alexey
- Ezzi Mohammed
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- Farthouat Philippe
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- Fassnacht Patrick
- Fassouliotis Dimitrios
- Faucci Giannelli Michele
- Favareto Andrea
- Fawcett William
- Fayard Louis
- Fedin Oleg
- Fedorko Wojciech
- Feigl Simon
- Feligioni Lorenzo
- Feng Cunfeng
- Feng Eric
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- Fenyuk Alexander
- Feremenga Last
- Fernandez Martinez Patricia
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- Ferrari Roberto
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- Ferrer Antonio
- Ferrere Didier
- Ferretti Claudio
- Fiedler Frank
- Filipuzzi Marco
- Filipčič Andrej
- Filthaut Frank
- Fincke-Keeler Margret
- Finelli Kevin
- Fiolhais Miguel
- Fiorini Luca
- Fischer Adam
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- Flaschel Nils
- Fleck Ivor
- Fleischmann Philipp
- Fletcher Rob
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- Flowerdew Michael
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- Franchini Matteo
- Franchino Silvia
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- Franklin Melissa
- Frate Meghan
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- Freeborn David
- Fressard-Batraneanu Silvia
- Freund Benjamin
- Froidevaux Daniel
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- Fukunaga Chikara
- Fusayasu Takahiro
- Fuster Juan
- Förster Fabian
- Gabizon Ofir
- Gabrielli Alessandro
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- Gach Grzegorz
- Gadatsch Stefan
- Gadomski Szymon
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- Gagnon Louis
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- Gallop Bruce
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- Galster Gorm
- Gan Kk
- Ganguly Sanmay
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- Garay Walls Francisca
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- García Navarro José
- García Pascual Juan
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- Gardner Robert
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- Gavrilenko Igor
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- Gee Norman
- Geisen Jannik
- Geisen Marc
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- Gellerstedt Karl
- Gemme Claudia
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- George Simon
- Gerbaudo Davide
- Geß{}ner Gregor
- Ghasemi Sara
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- Giagu Stefano
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- Giannetti Paola
- Gibson Stephen
- Gignac Matthew
- Gilchriese Murdock
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- Gilles Geoffrey
- Gingrich Douglas
- Giordani MarioPaolo
- Giorgi Filippo
- Giraud Pierre-Francois
- Giromini Paolo
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- Gkaitatzis Stamatios
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- Glasman Claudia
- Glatzer Julian
- Glaysher Paul
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- Goblirsch-Kolb Maximilian
- Godlewski Jan
- Goldfarb Steven
- Golling Tobias
- Golubkov Dmitry
- Gomes Agostinho
- Goncalves Gama Rafael
- Goncalves Pinto Firmino Da Costa Joao
- Gonella Giulia
- Gonella Laura
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- Gonnella Francesco
- Gonski Julia
- Gonzalez-Sevilla Sergio
- González de la Hoz Santiago
- Gonçalo Ricardo
- Goossens Luc
- Gorbounov Petr
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- Gorini Benedetto
- Gorini Edoardo
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- Goshaw Alfred
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- Goudet Christophe
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- Gramling Johanna
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- Grefe Christian
- Gregersen Kristian
- Gregor Ingrid-Maria
- Grenier Philippe
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- Griffiths Justin
- Grillo Alexander
- Grimm Kathryn
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- Gris Philippe
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- Guido Elisa
- Guillemin Thibault
- Guindon Stefan
- Gul Umar
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- Guo Jun
- Guo Wen
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- Gustavino Giuliano
- Gutelman Benjamin
- Gutierrez Ortiz Nicolas
- Gutierrez Phillip
- Gutschow Christian
- Guyot Claude
- Guzik Marcin
- Gwenlan Claire
- Gwilliam Carl
- Gössling Claus
- Haas Andy
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- Hadavand Haleh
- Haddad Nacim
- Hadef Asma
- Hageböck Stephan
- Hagihara Mutsuto
- Hakobyan Hrachya
- Haleem Mahsana
- Haley Joseph
- Halladjian Garabed
- Hallewell Gregory
- Hamacher Klaus
- Hamal Petr
- Hamano Kenji
- Hamilton Andrew
- Hamity Guillermo
- Hamnett Phillip
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- Hanawa Keita
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- Hanke Paul
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- Hard Andrew
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- Hartmann Nikolai
- Hasegawa Yoji
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- Havener Laura
- Havranek Miroslav
- Hawkes Christopher
- Hawkings Richard
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- Hays Jonathan
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- Helsens Clement
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- Herr Holger
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- Hertenberger Ralf
- Hervas Luis
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- Hesketh Gavin
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- Hildebrand Kevin
- Hill Ewan
- Hill John
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- Hirschbuehl Dominic
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- Hlaluku Dingane
- Hoad Xanthe
- Hobbs John
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- Hodgson Paul
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- Hoeferkamp Martin
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- Honda Shunsuke
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- Hooberman Benjamin
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- Hostachy Jean-Yves
- Hostiuc Alexandru
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- Howarth James
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- Hrdinka Julia
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- Hsu Pai-hsien
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- Huo Peng
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- Huston Joey
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- Hyneman Rachel
- Iacobucci Giuseppe
- Iakovidis Georgios
- Ibragimov Iskander
- Iconomidou-Fayard Lydia
- Idrissi Zineb
- Iengo Paolo
- Igonkina Olga
- Iizawa Tomoya
- Ikegami Yoichi
- Ikeno Masahiro
- Ilchenko Yuriy
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- Iordanidou Kalliopi
- Ippolito Valerio
- Isacson Max
- Ishijima Naoki
- Ishino Masaya
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- Zeng Jian
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- Zhang Rui
- Zhang Ruiqi
- Zhang Xueyao
- Zhang Yu
- Zhang Zhiqing
- Zhao Xiandong
- Zhao Yongke
- Zhao Zhengguo
- Zhemchugov Alexey
- Zhou Bing
- Zhou Chen
- Zhou Li
- Zhou Maosen
- Zhou Mingliang
- Zhou Ning
- Zhou You
- Zhu Cheng
- Zhu Hongbo
- Zhu Junjie
- Zhu Yingchun
- Zhuang Xuai
- Zhukov Konstantin
- Zibell Andre
- Zieminska Daria
- Zimine Nikolai
- Zimmermann Christoph
- Zimmermann Stephanie
- Zinonos Zinonas
- Zinser Markus
- Ziolkowski Michael
- Zobernig Georg
- Zoccoli Antonio
- Zou Rui
- zur Nedden Martin
- Zwalinski Lukasz
- Åkesson Torsten
- Šfiligoj Tina
- Ženiš Tibor
- Živković Lidija
- Άlvarez Piqueras Damián
- Publication venue
- 'Springer Science and Business Media LLC'
- Publication date
- 01/01/2017
- Field of study
A search for weakly interacting massive particle dark matter produced in association with bottom or top quarks is presented. Final states containing third-generation quarks and miss- ing transverse momentum are considered. The analysis uses 36.1 fb−1 of proton–proton collision data recorded by the ATLAS experiment at √s = 13 TeV in 2015 and 2016. No significant excess of events above the estimated backgrounds is observed. The results are in- terpreted in the framework of simplified models of spin-0 dark-matter mediators. For colour- neutral spin-0 mediators produced in association with top quarks and decaying into a pair of dark-matter particles, mediator masses below 50 GeV are excluded assuming a dark-matter candidate mass of 1 GeV and unitary couplings. For scalar and pseudoscalar mediators produced in association with bottom quarks, the search sets limits on the production cross- section of 300 times the predicted rate for mediators with masses between 10 and 50 GeV and assuming a dark-matter mass of 1 GeV and unitary coupling. Constraints on colour- charged scalar simplified models are also presented. Assuming a dark-matter particle mass of 35 GeV, mediator particles with mass below 1.1 TeV are excluded for couplings yielding a dark-matter relic density consistent with measurements
Finishing the euchromatic sequence of the human genome
- Author
- . Haifeng
- . Magner
- . Yin
- Abbott Scott
- Abbott-Ozersky Amanda
- Abdellah Zahra
- Abouelleil Amr
- Abrajano Anne
- Adachi Tamami
- Adam Catherine
- Adams Charles Q.
- Adamson Aaron
- Adekoya Emmanuel
- Adio-Oduola Babajide
- Aerts Andrea
- Aggarwal Arun
- Ahmadi Alireza
- Ahmed Shahana
- Aimable Matthew
- Ainscough Rachael
- Ait-Zahra Mostafa
- Aizu Tomoyuki
- Alcivare Dana
- Alegria Michelle
- Ali Alla
- Ali Johar
- Allegria-hartmann Michelle
- Alleman Jennifer
- Allen Carlana C.
- Allen Heather
- Allen Nicole R.
- Allen Susan
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- Almond Claire
- Alsbrooks Stephen L.
- Altherr Michael R.
- Amaratunge Harshinie C.
- Ambler Andrew
- Ambrose Karen
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- Amemiya Chris
- Amico-Keller Gina
- Amin Amita G.
- Anderson Mechele
- Anderson Scott
- Anderson Scott
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- Andriese Tim
- Anthouard Véronique
- Antonarakis Stylianos E.
- Anyalebechi Vivian
- Aoki Norie
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- Apweiler Eva
- Arachchi Harindra
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- Archer Beth
- Arellano Andre
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- Armbruster Jeff
- Armstrong Jon
- Arredondo Dilrukshi P.
- Arredondo Heather Hope
- Artiguenave François
- Asakawa Shuichi
- Asakawa Teruyo
- Ash Gareth
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- Aslanidis Cara
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- Cohn Judith D.
- Colayco Rick
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- Cox Anthony
- Cox Caroline D.
- Cox Tony
- Coxhill Robert
- Coyle Marcus D.
- Craig Matthew
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- Crawford Amanda L.
- Crawley Matt
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- Crew Victor
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- Cummings Paul
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- Cuomo Christina A.
- Curran Adam
- Curwen Valery
- Cutts Jeffrey
- Czubayko Martin
- D\u27Souza Lisa Marie
- Da Silva Corinne
- Dai Li
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- Daniels Rachael
- Dathorne Stephanie R.
- Daum Christopher
- David Robert
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- Davies Jonathon
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- Dawson Elisabeth
- De Anda Claudia
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- Dear Simon
- Dearden Frances
- DeArellano Kurt
- Deaven Larry I.
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- Deere Kerry
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- Degusta David
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- Donlin Jeremy E.
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- Engle David
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- Evans Gareth
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- Fujiyama Asao
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- Furey Terrence S.
- Furuhashi Mie
- Förste Silke
- Gabisi Abdul M.
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- Garnett Jane
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- Hancock Julie
- Harbes Brandy A.
- Harding Adam
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- Hillier LaDeana
- Hillyard Guy
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- Hitchens Matthew Edward
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- Krawczyk Marie-Claude
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- Kremmidiotis Gabriel
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- Kruchowski Scott S.
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- Mercer Simon
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- Murphy Michael
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- Zhang Guohua
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- Zhang Haiqing
- Zhang Haiqing
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- Zhang Hongbo
- Zhang Jingjing
- Zhang Jingjing
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- Zhang Jiuchun
- Zhang Jiuchun
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- Zhang Li
- Zhang Meihua
- Zhang Meng
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- Zhang Wei
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- Zhang Xianglin
- Zhang Xiaoliang
- Zhang Xiuqing
- Zhang Yan
- Zhang Yi
- Zhang Yilin
- Zhang Yilin
- Zhang Ying
- Zhang Yuansen
- Zhang Yuzhi
- Zhang Zhengdong
- Zhao Hongmei
- Zhao Lijian
- Zhao Shenru
- Zhao Zhijing
- Zhen Zhicheng
- Zheng Haibo
- Zhong Ming
- Zhou Carol
- Zhou Haixia
- Zhou Jianling
- Zhou Nannan
- Zhou Xinfeng
- Zhou Yan
- Zhou Yang
- Zhou Yi
- Zhu Bingying
- Zhu Bofeng
- Zhu Fenghua
- Zhu Genfeng
- Zhu Genfeng
- Zhu Miao
- Zhu Ning
- Zhu Yongge
- Zhu Zhen
- Zhuang Shitao
- Zierten Deborah
- Zimmer Andrew
- Zody Michael C.
- Zollo Massimo
- Zorrilla Sara E.
- Zuo Lin
- Publication venue
- LSU Digital Commons
- Publication date
- 21/10/2004
- Field of study
The sequence of the human genome encodes the genetic instructions for human physiology, as well as rich information about human evolution. In 2001, the International Human Genome Sequencing Consortium reported a draft sequence of the euchromatic portion of the human genome. Since then, the international collaboration has worked to convert this draft into a genome sequence with high accuracy and nearly complete coverage. Here, we report the result of this finishing process. The current genome sequence (Build 35) contains 2.85 billion nucleotides interrupted by only 341 gaps. It covers ∼99% of the euchromatic genome and is accurate to an error rate of ∼1 event per 100,000 bases. Many of the remaining euchromatic gaps are associated with segmental duplications and will require focused work with new methods. The near-complete sequence, the first for a vertebrate, greatly improves the precision of biological analyses of the human genome including studies of gene number, birth and death. Notably, the human enome seems to encode only 20,000-25,000 protein-coding genes. The genome sequence reported here should serve as a firm foundation for biomedical research in the decades ahead
Measurement of the top quark forward-backward production asymmetry and the anomalous chromoelectric and chromomagnetic moments in pp collisions at √s = 13 TeV
- Author
- Aarrestad Thea Klaeboe
- Abbaneo Duccio
- Abbiendi Giovanni
- Abbrescia Marcello
- Abdelalim Ahmed Ali
- Abdullin Salavat
- Abercrombie Daniel
- Abu Zeid Shimaa
- Acharya Himal
- Acosta Darin
- Acosta John Gabriel
- Adam Wolfgang
- Adams Mark Raymond
- Adams Todd
- Adzic Petar
- Afanasiev Serguei
- Agapitos Antonis
- Agarwal Garvita
- Aggleton Robin
- Agram Jean-Laurent
- Aguilar-Benitez Manuel
- Ahmad Ashfaq
- Ahmad Muhammad
- Ahmad Muhammad
- Ahuja Sudha
- Akbiyik Melike
- Akchurin Nural
- Akgun Bora
- Albajar Carmen
- Albergo Sebastiano
- Albert Andreas
- Albrow Michael
- Alcaraz Maestre Juan
- Aldaya Martin Maria
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- Hatakeyama Kenichi
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- Smith Geoffrey
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- Tonelli Manganote Edmilson José
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- Vargas Hernandez Andres Mateus
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- Yetkin Elif Asli
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- Zalewski Piotr
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- Zenaiev Oleksandr
- Zenz Seth Conrad
- Zeuner Wolfram Dietrich
- Zevi Della Porta Giovanni
- Zghiche Amina
- Zhang Aobo
- Zhang Fengwangdong
- Zhang Huaqiao
- Zhang Jingyu
- Zhang Sijing
- Zhang Wenyu
- Zhang Yi
- Zhang Zhicai
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- Zhu Ren-Yuan
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- Zlebcik Radek
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- Zorbilmez Caglar
- Zotto Pierluigi
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- Zuo Xunwu
- Zuolo Davide
- Álvarez Fernández Adrian
- Özçelik Özlem
- Publication venue
- Publication date
- 01/01/2019
- Field of study
Abstract The parton-level top quark (t) forward-backward asymmetry and the anomalous chromoelectric (d̂ t) and chromomagnetic (μ̂ t) moments have been measured using LHC pp collisions at a center-of-mass energy of 13 TeV, collected in the CMS detector in a data sample corresponding to an integrated luminosity of 35.9 fb−1. The linearized variable AFB(1) is used to approximate the asymmetry. Candidate t t ¯ events decaying to a muon or electron and jets in final states with low and high Lorentz boosts are selected and reconstructed using a fit of the kinematic distributions of the decay products to those expected for t t ¯ final states. The values found for the parameters are AFB(1)=0.048−0.087+0.095(stat)−0.029+0.020(syst),μ̂t=−0.024−0.009+0.013(stat)−0.011+0.016(syst), and a limit is placed on the magnitude of | d̂ t| < 0.03 at 95% confidence level. [Figure not available: see fulltext.
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