96 research outputs found
Stimulus-dependent suppression of intrinsic variability in recurrent neural networks
- Publication venue
- BioMed Central
- Publication date
- 01/01/2010
- Field of study
Molecular Design Parameters of Anthraquinone Dyes for Guest-Host Liquid-Crystal Applications : Experimental and Computational Studies of Spectroscopy, Structure and Stability
- Author
- Publication venue
- 'American Chemical Society (ACS)'
- Publication date
- 16/05/2016
- Field of study
A set of five anthraquinone dyes with bis(4-propylphenyl) substituent groups, connected via sulfide or amine linkages at the 1,5-positions or directly at the 2,6-positions, have been studied in solution by UV-vis spectroscopy and electrochemistry, allied with density functional theory calculations of structures, electronic transitions, and redox potentials. The visible transitions and redox potentials are shown to vary with the HOMO and LUMO energies, with the variation in both color and redox stability between the dyes being attributable principally to variations in the HOMOs located mainly on the substituents and outer anthraquinone rings. The calculated molecular structures and visible transition dipole moments are shown to vary subtly with substituent, giving variations in the molecular aspect ratios, minimum moment of inertia axes, and transition dipole moment vector orientations that can rationalize the alignment trends reported in the literature for such anthraquinone dyes in liquid crystal hosts, showing why 1,5-disulfide and 2,6-diphenyl substituents give better designs than 1,5-diamine substituents. The computational approaches reported here are shown to give good matches with experimental trends, indicating that they may be used more generally to aid the rational molecular design of dyes for applications as guests in liquid crystal hosts
Reproductive failure, possible maternal infanticide, and cannibalism in wild moustached tamarins, Saguinus mystax
- Author
- AC Smith
- AF Fraser
- AW Goldizen
- AW Goldizen
- BM Bezerra
- C Cäsar
- C Lazaro-Perea
- CM Nievergelt
- DEN Tait
- DH Abbott
- E Tirado-Herrera
- E Voland
- Eckhard W. Heymann
- EW Heymann
- EW Heymann
- F Encarnación
- Fernando J. J. Muñoz Lazo
- G Achenbach
- HH Sambraus
- JA French
- JM Dietz
- K Vleeschouwer
- L Digby
- L Digby
- L Ebensperger
- L Melo
- Laurence Culot
- LJ Digby
- LJ Digby
- LM Porter
- M Huck
- Marie-Claude Huynen
- MF Arruda
- ML Schneider
- NG Solomon
- Oda Hoelscher
- P Löttker
- PA Garber
- PH Harvey
- R Curtin
- R Hilário
- S Roda
- S Sanchez
- S Sanchez
- SB Hrdy
- SB Hrdy
- SD Tardif
- SD Tardif
- SF Lunn
- ST Emlen
- TE Ziegler
- TH Clutton-Brock
- W Saltzman
- Y Lledo-Ferrer
- Yvan Lledo-Ferrer
- Publication venue
- Springer Japan
- Publication date
- 01/01/2011
- Field of study
Maternal infanticide in wild non-human primates has only been reported twice. In this paper, we report a possible new case of infanticide and cannibalism within a series of four successive reproductive failures in wild moustached tamarins, Saguinus mystax. Necropsy and genetic analyses of the corpses enabled us to rule out any pathology, and to determine paternity. The mother was seen biting and then eating the head of its own infant during a period when another female was pregnant and gave birth just 1 month later. Before that, the perpetrator had given birth to twins three times successfully when four to five adult and subadult males were present in the group. Although we do not know for certain that the infant was alive when the mother started biting it, our field observations preceding the event suggest it probably was. The possible infanticide case and the two cases of births and early death of the infants occurred while only two to three adult males were present in the group. This could be the second case of maternal infanticide reported in the genus Saguinus and the similar circumstances suggest a common pattern. We discuss these events in the light of the different functional explanations of infanticide and conclude that parental manipulation was the most likely: the mother could have terminated the investment in offspring that had low chances of survival in a group with low availability of helpers
Bostonia: The Boston University Alumni Magazine. Volume 16
- Author
- Abbott Norman H.
- Ault Warren O.
- Avery Bennett F.
- Barry Edmund R.
- Bond Estelle
- Buel Laurence F.
- Butler Judson Rea
- Casey Edward R.
- Child Ruth S.
- Collier Edward R.
- Coyne Catherine
- Davis Jesse B.
- Davis T. Lawrence
- de Aragon Gustavo
- Durrell Donald D.
- Fisk Everett O.
- Geiringer Karl
- Hardy Roger A.
- Harmon John M.
- Hettrick Elwood H.
- Hooker Sanford B.
- Jones Gladys Beckett
- Keefer Chester S.
- Kelley Henry O.
- Kelley Kenneth G.
- Kramer Murray
- Krasker Abraham
- Lahey Frank H.
- Lee Wesley T.
- Marsh Daniel L.
- Meyer Alfred H.
- Mosely Eleanor R.
- Perkins John S.
- Sampson Arthur
- Sharples Dorothy E.
- Sundberg Cliff
- Sutcliffe William G.
- Thomson Charles A.
- Walsh Franklin S.
- Waxman Samuel M.
- Weiss Stephen
- Publication venue
- Boston University
- Publication date
- 01/01/1942
- Field of study
Founded in 1900, Bostonia magazine is Boston University's main alumni publication, which covers alumni and student life, as well as university activities, events, and programs
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
- Allen Thaddeus
- Almeida Jeff
- Almond Claire
- Alsbrooks Stephen L.
- Altherr Michael R.
- Amaratunge Harshinie C.
- Ambler Andrew
- Ambrose Karen
- Ambrose Kerrie
- Amemiya Chris
- Amico-Keller Gina
- Amin Amita G.
- Anderson Mechele
- Anderson Scott
- Anderson Scott
- Andora Janice
- Andredesz Carol
- Andrew Robert
- Andrews Dan
- Andrews Daniel
- Andrews Neil
- Andrews Stephanie
- Andriese Tim
- Anthouard Véronique
- Antonarakis Stylianos E.
- Anyalebechi Vivian
- Aoki Norie
- Apostolou Sinoula
- Apweiler Eva
- Arachchi Harindra
- Arai Rie
- Arbery Hazel
- Arcaina Marlon
- Arcaina Terisita
- Archer Beth
- Arellano Andre
- Arellano-Jones Perry
- Armbruster Jeff
- Armstrong Jon
- Arredondo Dilrukshi P.
- Arredondo Heather Hope
- Artiguenave François
- Asakawa Shuichi
- Asakawa Teruyo
- Ash Gareth
- Ashcroft Kevin
- Ashurst Jennifer
- Ashwell Robert
- Ashworth Linda K.
- Aslanidis Cara
- Asomugha Chinwe O.
- Asuncion Lawreen
- Atkin Deborah
- Atkinson Andrea
- Atkinson Barry
- Attix Cristina
- Attwood John
- Aubin Keith
- Auger Katherine
- Austin Shannon Michelle
- Avila Aaron
- Avis Terry
- Ayele Mulu
- Babayan Primo
- Babbage Anne
- Babbage Sarah
- Bach Phil
- Bachatsang Pasang
- Bacon Joanne
- Badri Hummy
- Baertsch Robert
- Bagguley Claire
- Bailey Jonathan
- Bajorek Eva
- Baker Andrew
- Baker Dan
- Baker M.
- Baker Richard
- Bakis Michele
- Baldwin Jennifer
- Banda Michael
- Banerjee Ruby
- Bao Jingyue
- Bao Qiyu
- Bao Weidong
- Bao Weidong
- Baptiste Pertrice
- Barbaria Joseph A.
- Barbe Valérie
- Bardill Simon
- Barker Daniel
- Barker Darren
- Barker Gary
- Barlow Karen
- Baron Laurent
- Barrett Anika
- Bartlett Rebecca
- Basham Victoria
- Bashman David
- Basu Suba
- Bateman Alex
- Bates Karen
- Battles John
- Batzer Mark
- Baumgart Cornelia
- Baumohl Jason
- Baynes Caroline
- Bayul Tashi
- Beall Keith
- Beard Lisa
- Beard Susan
- Beare David
- Beasley Alastair
- Beasley Helen
- Beasley Oliver
- Beaucham Leslie
- Beaudet Arthur
- Beck Alfred
- Beck Stephen
- Becker Michael
- Bell Emma
- Bell George I.
- Bellard Terell M.
- Bellerby Damian
- Bellerby Tristram
- Belter Edward A., Jr.
- Bemrose Richard
- Benard Michael Anthony
- BenKahla Alia
- Benke J
- Benner William
- Bennett James
- Bensasson Douda
- Bentley Andrew
- Bentley Dan
- Bentley David
- Berardinis Véronique de
- Bercovitz John
- Berghoff Amy
- Bergmann Anne
- Berkowicz Nicolas
- Berks Mary
- Berks Michael
- Bethel Graeme
- Beugelsdijk Tony J.
- Bhakta Rita
- Bhuchar Venita
- Bi Shihua
- Bian Xuemeng
- Bieri Tamberlyn
- Bimage Kesha E.
- Bird Christine
- Birditt Brian
- Birney Ewan
- Birney Ewan
- Birren Bruce
- Bissell Helen
- Biswalo Kaneza
- Bituin Aleksandr
- Black Stacey
- Blackburne-Maze Suzanne
- Blair Jessica Anne
- Blakey Sarah
- Blanks Tia
- Blasiar Darin
- Blazej Robert
- Blitshsteyn Berta
- Blomstrom David B.
- Bloom Scott
- Bloom Toby
- Blumer Heather
- Blye Jason
- Blyth Peter R.
- Blöcker Helmut
- Boatright Elizabeth
- Boehm John
- Boen Juanan
- Boguslavskiy Leonid
- Bolton Christel
- Bolund Lars
- Bondoc Marnel
- Bonfield James
- Bonnett Ralph
- Bonnin David
- Border Richard
- Borowsky Mark
- Borzym Katja
- Boukhgalter Boris
- Bowen Eric
- Bradley Amanda
- Bradshaw-Cordum Holly
- Brady Nicola
- Brandriff Brigitte F.
- Brannon Wade
- Branscomb Elbert
- Bray Jason
- Bray-Allen Sarah
- Brettin Thomas
- Bridgeman Anne
- Bridgers Michael
- Brimhall Angela K.
- Brokstein Peter
- Brook Jonathan
- Brooking Shane
- Brottier Philippe
- Brown Andrew
- Brown Clive
- Brown Jacqui
- Brown Margaret
- Brown Mary
- Brown Mary J.
- Brown Michael
- Brown Nancy C.
- Bruce David D.
- Bruce Robert
- Bruno William J.
- Bruskiewich Richard
- Bryant Jackie
- Bryant Jennifer E.
- Bryant Nathaniel P.
- Brüls Thomas
- Buatsi Delali
- Buck David
- Buckingham Judith M.
- Buckle Veronica
- Buczek Donald
- Budd Claire
- Buhay Christian J.
- Bulbul Kerem
- Buller Sarah
- Bunker Nathan
- Burberry Jill
- Burch Paula Ellen
- Burford Deborah
- Burgess Joanne
- Burgin Matt
- Burkett Carrie E.
- Burkhart-Schultz Karolyn
- Burrell Kevin L.
- Burrill Wayne
- Burrows Christine
- Burton Christine
- Burton John
- Butcher Phil
- Butler Adam
- Butler Jon
- Butler Paul
- Caenepeel Sean
- Cahill Patrick
- Cai Tianjing
- Cai Zhen
- Cairns Murray
- Calderon Eliana
- Callen David F.
- Camarata Jody
- Camire David
- Camm Nick
- Campbell Christopher
- Campbell Connie S.
- Campbell Evelyn W.
- Campbell Mary I.
- Campbell Mary L.
- Campo Kevin
- Canning Bruno
- Cao Ting
- Cao Yuzhu
- Caoile Chenier
- Cardenas Faviola
- Cardenas Lolo
- Cardenas Veronica
- Carder Carol
- Carder Paul
- Carpenter Kelly
- Carrano Anthony V.
- Carriere Jason
- Carter Jason
- Carter Kelvin
- Carter Nigel
- Caruso Lauren
- Casias Kristal
- Cattolico Laurence
- Cavanna Tamara
- Cavazos Iracema
- Cavazos Sandra R.
- Ceasar Heather
- Cedroni Maria
- Cepeda Mario
- Chacko Joseph
- Chain Patrick
- Chalk Shani
- Challacombe Jean F.
- Chan Ka
- Chan Sheryl N.
- Chan Yee Man
- Chang Jean L.
- Chapman Jarrod
- Chapman Joanna
- Chapple Jeffrey
- Charles Rachel
- Chasteen Leslie A.
- Chavarria Simeon
- Chazaro Bruno
- Chen Baoxian
- Chen Bin
- Chen Chira
- Chen Chong
- Chen Chong
- Chen Chun-Nan
- Chen Cong
- Chen Ellson
- Chen Hsiu-Chuan
- Chen Jianlong
- Chen Jie
- Chen Jin
- Chen Junbao
- Chen Lihong
- Chen Lixia
- Chen Ray
- Chen Shu
- Chen Tong
- Chen Xiaoyun
- Chen Xinyi
- Chen Yanjiong
- Chen Yiyu
- Chen Zhu
- Chen Zhu
- Chen Zhu
- Cheng Jan-Fang
- Cheng Zhihua
- Chertkov Olga
- Cheshatsang Yama
- Chi Cheng
- Chi Han C.
- Chillingworth Neil
- Chin Sylvia
- Chinn Corey
- Chinwalla Asif
- Chissoe Stephanie
- Chiu Sally
- Chothia Tom
- Christensen Mari
- Christopoulos Constantine
- Chu Joseph
- Chui Connie
- Chung A
- Cinkowsky Michael J.
- Citroen Mieke
- Clack Rob
- Clamp Michele
- Clark Anthea
- Clark Graham
- Clark Kevin
- Clark Lynn
- Clark Lynn M.
- Clark Richard
- Clark Sarah
- Clark Sue
- Clarke Adrian
- Clarke Betty
- Clarke Eddie
- Clarke Kay
- Clarke Laura
- Clawson Hiram
- Clee Chris
- Clegg Shelia
- Clerc Blankenburg Kerstin Petra
- Cleveland David
- Clifford Karen
- Clifton Sandra W.
- Coates Julia
- Cobley Victoria
- Cockrell Raynard
- Coffey Alison
- Cofield Jackie
- Coggill Penelope
- Cohn Judith D.
- Colayco Rick
- Cole Lotte
- Collier Rachael
- Collings Simon
- Collins Francis S.
- Collins John
- Collins Philip
- Collymore Al
- Colman Louise
- Combs Jessie
- Comstock Robin
- Cong Bin
- Conner Richard
- Connolly Anthony
- Connolly Karen
- Conquer Jennie
- Conrad Ansgar
- Conroy Donald
- Considine Tony
- Constance Doug
- Cook April
- Cook Leanna
- Cooke Patrick
- Cooper Jonathan
- Cooper Rachel
- Cooper Robert
- Copeland Alex
- Coppola Maria
- Copsey Teresa
- Corby Nicole
- Cordes Matt
- Cordray Rebecca
- Cornell Christine
- Cornell Earl
- Cornell Linda
- Cornell Ruth
- Corum Ben
- Cottage Amanda
- Cotton Sara
- Coulson Alan
- Couronne Olivier
- Courtney Laura P.
- Coville Gez
- Cox Anthony
- Cox Caroline D.
- Cox Tony
- Coxhill Robert
- Coyle Marcus D.
- Craig Matthew
- Crane Tom
- Crawford Amanda L.
- Crawley Matt
- Cree Andrew
- Crespeau Hervé
- Crew Victor
- Critchlow Terrance
- Critz Paul
- Cruaud Corinne
- Cuff James
- Cui Hongjuan
- Cui Jinhui
- Cui Peng
- Cui Peng
- Culley Karl
- Cummings Auli
- Cummings Kirsti
- Cummings Paul
- Cummings Stephanie
- Cuomo Christina A.
- Curran Adam
- Curwen Valery
- Cutts Jeffrey
- Czubayko Martin
- D\u27Souza Lisa Marie
- Da Silva Corinne
- Dai Li
- Dalin Eillen
- Dang Michelle
- Danganan Linda
- Daniels Rachael
- Dathorne Stephanie R.
- Daum Christopher
- David Robert
- Davidson Lucy
- Davidson Stuart
- Davies Jonathon
- Davies Joy
- Davies Nicholas
- Davies Robert
- Davila Mary Louise
- Davis Candi Mon\u27et
- Davis Cheryl
- Davis Clay
- Davis Jayne
- Davis John
- Davis Matthew
- Davy-Carroll Latarsha
- Dawoe Tenzin
- Dawson Elisabeth
- De Anda Claudia
- De Latorre Andrea
- Deadman Rebecca
- Dean Peter
- Dear Simon
- Dearden Frances
- DeArellano Kurt
- Deaven Larry I.
- Deaven Larry L.
- Deere Kerry
- DeGray Stewart
- Degusta David
- Deguzman Maria
- Dehal Paramvir
- Delgado Marcos
- Delgado Oliver
- Delhaunty Kimberley
- Deloukas Panos
- Deng Yajun
- Dennis Janet
- Denson Shawn
- Denys Mirian
- Deramo Christine
- Desai Anu
- Detter John C.
- Devlin Laurie
- Dewar Ken
- Dhami Pawandeep
- Dhongsar Chemey
- Dias Jennifer
- Dias Victoria
- Dibartolo Genevieve
- Dibling Catherine
- Dickson Mark
- Diekhans Mark
- Dietz-Band Jeanne
- Digennaro Richard
- Dilts Karen
- Dimitrijevic-Bussod Mira
- Ding Hao
- Ding Keyue
- Ding Li
- Ding Yan
- Dinh Huyen H.
- Dixon Kami
- Do Long
- Dobbs Ruth
- Dobson Richard
- Dockree Catherine
- Doddington Daniel
- Dodsworth Steven
- Doggett Norman
- Doggett Norman A.
- Dong Hui
- Dong Kimberly
- Dong Wei
- Dong Wei
- Dong Xiaojia
- Donlin Jeremy E.
- Dooley Kathy
- Dooling David
- Dorje Passang
- Dorjee Kunsang
- Dorris Lester
- Dorsett Victor
- Doucette-Stamm Lynn
- Douthwaite Karen J.
- Down Thomas
- Draper Heather
- Du Feiyu
- Du Hui
- Du Yutao
- Duarte Suzanne
- Dubchak Inna
- Duffy Noah
- Dugan-Rocha Shannon
- Dunham Andrew
- Dunham Ian
- Dunn Adam M.
- Dunn Anne
- Dunn Matthew
- Dunwell Erin
- Dupes Alan
- Durbin Kenneth J.
- Durbin Richard
- Durham Jillian
- Dutta Ireena
- Dwyer Ruth
- Dyer Lauren
- Dziuda Darius
- Earnhardt Christopher D.
- Earthrowl Mark
- Eastham Emma
- Eastham Timothy
- Eaves Kristy A.
- Eckenberg Ralph
- Edgar Darren
- Edionwe Susan Omwanghe Osayanro
- Edwards Carol
- Edwards Jennifer
- Edwards Karen
- Egan Amy
- Eichler Evan
- Eichler Evan
- Ejima Fumio
- Elkin Chris
- Ellington Andrew
- Elliot David
- Elliot Glendoria
- Elliot Jeffrey
- Ellwood Matthew
- Emberson Becky
- Emelianenko Natalia
- Emery-Cohen Alexandra J.
- Endrizzi Matthew
- Engh Ger van den
- Engle David
- Erickson Jeffery
- Erler Anne Marie
- Errington Helen
- Escobar Julio
- Escotto Michael
- Eugene Craig S.
- Evans Gareth
- Evans John
- Evans Katie
- Evans Richard
- Eveleth Gerald
- Eyras Eduardo
- Fan Hongyuan
- Fan Keke
- Fang Jianqiu
- Farina Abderrahim
- Faro Susan
- Faulkner Louisa
- Fawcett Joseph J.
- Fechtel Kim
- Fellingham Charlotte
- Felming Claire
- Felsenfeld Adam
- Feltwell Theresa
- Feng Guodong
- Feng Haiyan
- Feng Jie
- Feng Xiaoli
- Fennell Stephen
- Ferguson Alicia
- Fernandez Sonia
- Fernandez-Suarez Xose
- Fernando Pushpa Ranjani
- Ferriera Pat
- Fertitta Anne
- Fey Jim
- Fidel Patrick
- Fields Elizabeth
- Fink Marie
- Finley Maria C.
- Finn Robert
- Fischer Heather
- Fischer Laurice
- Fisher Shelia
- Fitch Pat
- Fitzgerald Mike
- Flack Tina
- Flagg Nicole
- Flanagan J.
- Fleming Kerry
- Flint Jonathan
- Flint Mark
- Flowers Dave
- Floyd Yvonne
- Foley Karen
- Folta Peg
- Fong Jonathan
- Fonknechten Núrua
- Footman Simon
- Forbes Lisa D.
- Ford Amanda F.
- Foster Myre J.
- Fotopulos Dea
- Fourcade Matthew
- Fowler John
- Fox Jessica
- Frame Deborah
- Francis Matthew
- Francis Stephen
- Frankel Ken
- Frankish Adam
- Frankland John
- Fraser Audrey
- Fraser David
- Frazier Marvin
- French Lisa
- Fricker David
- Fridlyand Jane
- Fronick Catrina
- Frost Carole
- Frost Daniel
- Frost Jackie
- Frost Lorna
- Fu Gang
- Fu Gang
- Fu Gang
- Fu Qiushi
- Fujioka Michiru
- Fujiyama Asao
- Fukawa Rintaro
- Fuller Liam
- Fuller Sharin
- Fullerton Kathryn
- Fulton Lucinda A.
- Fulton Robert S.
- Furey Terrence S.
- Furuhashi Mie
- Förste Silke
- Gabisi Abdul M.
- Gage Diane
- Gaige Tony
- Galgoczy Petra
- Gallegos Celsa
- Galvez Michael
- Gammon Stuart
- Gao Anwu
- Gao Jimei
- Gao Quan
- Gao Yang
- Gao Yimei
- Garcia Carmen
- Garcia Emilio
- Garcia Marvin
- Garcia Ricardo M, III
- Garcia-Martinez Antonio
- Gardner Alison
- Gardner Alison
- Garduno Consuelo
- Gardyna Steph
- Garner Patrick
- Garner Toni T.
- Garnes Jeffrey A.
- Garnett Jane
- Garza Melissa
- Gatewood Joseph M.
- Gatland Leigh
- Gatland Lindsay
- Gattung Stacie
- Gay Laura
- Gearin Gary
- Gebreyesus Binyam
- Gelein Cynthia
- Gelpke Maartin
- Gench Stephanie L.
- Geng Jianing
- Georgescu Anca
- Geotina Amy
- Ghori Jilur
- Ghose Sayantan
- Gibbs Ben
- Gibbs Richard A.
- Gibson Diane
- Gibson Elizabeth
- Gifford Mary
- Gil Isaias
- Gilbert James
- Gilby Lisa
- Gill Rachel
- Gillet Will
- Gillson Christopher
- Gilna Paul
- Gimmel Verena
- Gingrich Jeff
- Giovanelli Kira
- Glavina Tijana
- Glithero Rebecca
- Glöckner Gernot
- Gnerre Sante
- Gnirke Andreas
- Gold Darren
- Golinveaux Kristen
- Gomez Maria
- Gong Guanghui
- Gong Jinying
- Gonzales Eidelyn
- Gonzalez Guillermo B.
- Gooderham April
- Goodstadt Leo
- Goodstein David
- Goodwin Lynne A.
- Gordon Catherine
- Gordon Laurie A.
- Gordon Seth
- Gorton Matthew
- Gorvad Ann
- Gould Christine
- Goyea Ernest
- Goyette Audra
- Grady Deborah I.
- Grady Michelle L.
- Grafham Darren
- Graham Joe
- Grandbois Edward
- Grant Jennifer
- Grant Michael
- Grant Susan
- Graves Tina A.
- Gray Bruce
- Gray Emma
- Gray Lain
- Green Lisa
- Greenhalgh James
- Greenhill Joe
- Gregg Philippa
- Gregory Simon
- Grewal Nennu
- Gribble Susan
- Griffith Jeffrey K.
- Griffiths Coline
- Griffiths Ed
- Griffiths Mark
- Griffiths-Jones Sam
- Grigoriev Igor
- Grimwood Jane
- Grocock Russell
- Groza Matthew
- Gu Jingli
- Gu Jun
- Gu Jun
- Gu Wenyi
- Gu Wenyi
- Gu Xiaochang
- Guan Qiaoning
- Guarin Hannibal
- Guel Metzalli
- Guerra William
- Guevara Whitney V.
- Gui Qi
- Gunaratne Preethi
- Gunning Kate
- Guo Daorong
- Guo Jane
- Guo Lili
- Gustafson Erik
- Guthrie Ian
- Guyer Mark
- Gwilliam Rhian
- Gyaltsen Kunsang
- Gyapay Gábor
- Görlich Yvonne
- Ha Chi
- Hafez Nabil
- Haglund Krista
- Hagopian Daniel
- Hagos Birhane
- Haim Allen
- Hajek Patrick
- Hall Brett Lynn
- Hall Brittany
- Hall Jennifer
- Hall Rebekah
- Hall-Tamly Gretta
- Halls Karen
- Hallsworth-Pepin Kym
- Hamada Junko
- Hamilton Cerissa
- Hamilton Keelan A.
- Hamilton Matt
- Hamlett John
- Hamlett John
- Hammon Nancy
- Hammond Martin
- Hammond Sha
- Hammond Sian
- Hamza Khalid
- Han Guiqing
- Han Shunsheng
- Han Xurong
- Hanak Vincent A.
- Hancock Julie
- Harbes Brandy A.
- Harding Adam
- Harkins C. Richard
- Harley Joanne
- Harper David
- Harper Georgina
- Harper Patrik
- Harradence Grant
- Harris Anthony
- Harrison Charlene-Lou
- Harrison Elliot
- Harrison Ruth
- Hart Elizabeth
- Hasegawa Tomoko
- Hashimoto Etsuko
- Hashimoto Wakako
- Hassan Daniel
- Hatcher Beath
- Hattori Masahira
- Haugen Eric
- Haussler David
- Havlak Paul
- Hawes Alicia C.
- Hawkins Ebere Sylvia Onyirioha
- Hawkins Natalie
- Hawkins Trevor
- Hawley Kellie
- Haydu Lauren
- Hayes Kerry
- He Fengying
- He Jiaying
- He Lin
- Heaford Andrew
- Heath Paul
- Heathcott Rosemary
- Heilig Roland
- Heiner Cheryl
- Heinze Ivonne
- Heitmann Katja
- Helfenbein Keven
- Heller Andrew
- Hellsten Uffe
- Hembry Cathy
- Henderson Carl
- Henderson Nicholas
- Henderson Nina
- Hendrix David
- Hennig Steffen
- Henning Karla
- Hepa Victor
- Herd Tim
- Herman Charles
- Hernandez Judith
- Hernandez Omar
- Herseim Allyson
- Hewitt Stephen
- Heyen Joshua
- Higgs Douglas
- Hildebrand Carl E.
- Hillier LaDeana
- Hillyard Guy
- Hines Sandra
- Hinkins Russell
- Hinrichs Angela S.
- Hitchens Matthew Edward
- Ho Issac
- Ho Sara-Jane
- Hodgson Anne V.
- Hodgson David
- Hoffman Susan M.G.
- Hoffs Michael
- Hogues Marilyn E.
- Holden Jane
- Holdgate Janet
- Hollaway Mara
- Hollins Barbara
- Holloway Ele
- Holmes Andrea
- Holmes Ian
- Holmes Sarah
- Holroyd Simon
- Holtz Ann
- Holtzer Caleb
- Homsi Deana K.
- Homsi Farah J.
- Honan Tracy
- Hood Leroy
- Hooper Alison
- Hopewell Lucy
- Hopkins Ben
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- Sutherland Grant R.
- Sutherland Robert D.
- Sutton Angelica E.
- Svatek Amanda F.
- Svetz Jessica
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- Tagett Beckie
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- Tenzin Pema
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- Tester Julieanne
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- Thorne Rachel Diane
- Thorpe Andrea
- Thorpe Karen
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- Tian Chaoguang
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- Tice Hope
- Tighe Damon
- Tin-Wollam Aye M.
- Tinsley Emma
- Tochigi Miwako
- Togashi Naoko
- Tomizawa Iori
- Tomlinson Chad
- Tong Jingli
- Topham Kerri
- Torcaso Bill
- Torney David C.
- Totoki Yasushi
- Towey Sarah
- Toyoda Atsushi
- Tracey Alan
- Tran Ly Thanh
- Tran-Gyamfi Mary
- Trani Lee
- Trankiem Margie
- Trask Barbara J.
- Travers Johnathan
- Trejos Zulma Y.
- Treuhaft Marianne
- Trevino Brenda Kaye
- Tromans Anthony
- Trong Stephan
- Trumbower Heather
- Tsai Ming
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- Tubby Ben
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- Ukegbu Ogechi Nkemdirim
- Ulanovsky Levy E.
- Un Chun
- Ung Quyen
- Upson Darren
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- Ureta-Vidal Abel
- Ureta-Vidal Abel
- Usmani Kamran
- Ustaszewska Anna
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- Valdez Michelle
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- Vassiliev Helen
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- Verduzco Daniel
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- Wan Ma
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- Wang Ying
- Wang Ying
- Wang Yuanyuan
- Wangchuck Tsering
- Wangdi Tsering
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- Warren Graham
- Warren James T.
- Warry Georgina
- Watanabe Hidemi
- Watanabe Saki
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- Wehri Edward
- Wei Shulin
- Wei Xuehong
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- Wen Gaiping
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- Wheatley Angela
- Wheatley Carl
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- Whittaker Charles
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- Wickremasinghe Manosha I.
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- Wong Gane K-S
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- Wright Debbie
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- Wright Rita A.
- Wu Chungen
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- Wylie Kris
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- Xi Yan
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- Xie Fei
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- Yadav Shailendra
- Yakub Syed
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- Yamamoto Yuko
- Yamashita Yasue
- Yamazaki Satoru
- Yang Hao
- Yang Huanming
- Yang Huanming
- Yang Joan
- Yang Shiaw-Pyng
- Yang Shudong
- Yang Xiaonan
- Yang Xiaonan
- Yang Xiaoping
- Yang Yongkui
- Yano Candance
- Yao Zhijian
- Yao Zhijian
- Yaspo Marie-Laure
- Ye Chen
- Yeager Shane
- Yeh Mimi
- Yen Jennifer
- Yeshitela Rahel Retta
- Yoakum Martin
- Yokobata Kathy
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- Yu Jun
- Yu Jun
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- Yumae Brian
- Yun Rui
- Zainoun Joanne
- Zembeck Lisa
- Zeng Yixin
- Zhai Dong
- Zhan Guoping
- Zhang Bo
- Zhang Caimin
- Zhang Fengmei
- Zhang Guangyu
- Zhang Guohua
- Zhang Guohua
- Zhang Haiqing
- Zhang Haiqing
- Zhang Haiqing
- Zhang Hongbo
- Zhang Hongbo
- Zhang Jingjing
- Zhang Jingjing
- Zhang Jingkun
- Zhang Jiuchun
- Zhang Jiuchun
- Zhang Lanzhi
- Zhang Li
- Zhang Li
- Zhang Meihua
- Zhang Meng
- Zhang Ming
- Zhang Qing
- Zhang Ruhua
- Zhang Shaojie
- Zhang Tiezhen
- Zhang Wei
- Zhang Wei
- Zhang Xianglin
- 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
Guide to Geographical Indications: Linking Products and Their Origins (Summary)
- Author
- A Berenguer
- A F Wolf
- A Grazioli
- A Hansen
- Ajay Dua
- Amy Cotton
- Amy Cotton
- Andr�s Villalobos
- Angela Tregear
- Angela Tregear
- Angelo Zago
- Angelo Zago
- Angelo Zago
- Astrid Gerz
- Astrid Gerz
- B Lewin
- B Sylvander
- Bbc News
- Bernard O&apos
- Bernard O&apos
- Bernard O&apos
- Bernard O&apos
- Bernard O’Connor
- Bertil Sylvander
- Bridges
- Bruce Babcock
- C Berger
- C D Garcia
- C Ranaboldo
- C Ranaboldo
- Catherine Grant
- Cerdan Claire
- Christian Berger
- Christine Farley
- Company O&apos
- D Barjolle
- D Barjolle
- D Barjolle
- D C Washington
- D Downes
- D Gervais
- D Holt
- D Rangnekar
- D Rangnekar
- D Rangnekar
- D Roberts
- D V Gordon
- D Vivas-Eugui
- Daniele Giovannucci
- Daniele Giovannucci
- Daniele Giovannucci
- Daniele Giovannucci
- David Snyder
- Denis Sautier
- Dermot J Hayes
- Dev Gangjee
- Dev Gangjee
- Douglas Holt
- E Saraceno
- Eduardo Ramirez
- Eleanor K Meltzer
- Eleanor Meltzer
- Eleanor Meltzer
- Elizabeth Barham
- Elizabeth Barham
- Elizabeth March
- Emmanuel Raynaud
- Erik Thevenod-Monet
- Erik Th�venod-Mottet
- F Addor
- F Arfini
- F Galtier
- Ficci
- Franck Dupont
- Frederic Wallet
- Frederick Abbott
- Frederick Abbott
- G Belletti
- G Belletti
- G Belletti
- G Belletti
- G Boyhan
- G Boyhan
- G Dutfield
- G Dutfield
- G Dutfield
- G Dutfield
- G M Grossman
- Gail Evans
- Georgina Holt
- Giancarlo Moschini
- Gianluca Brunori
- Giovanni Belletti
- Gustavo Capdevila
- H Harte-Bavendamm
- H Rangel Ortiz
- Heather A Dunn
- Ilse Du Plessis
- India Government Of
- Iowa Ames
- Irene Calboli
- Irina Kireeva
- J C Galland
- J E Hobbs
- J E Hobbs
- J E Hobbs
- J E Hobbs
- J E Hobbs
- J E Hobbs
- J E Hobbs
- J E Hobbs
- J E Hobbs
- J E Hobbs
- J Fulton
- J Watal
- James Lee
- James Lee
- Jayashree Watal
- Jayashree Watal
- John Barton
- Jorge L Guerra
- Jorge Larson
- Justin Hughes
- K C Kailasam
- K Das
- K Moran
- Kate Ravilious
- Keith Maskus
- L Baeumer
- L Busch
- L B�rard
- L M Young
- L R Nair
- Laurence B�rard
- Lee Branstetter
- M Blakeney
- M De Rosa
- M Fonte
- M Fonte
- M Fulton
- M H�pperger
- M Loureiro
- M Thienes
- Madhavi Sunder
- Mangala Hirwade
- Mariano Riccheri
- Marion Panizzon
- Matthijs Geuze
- Matthijs Geuze
- May T. Yeung
- Michael Maher
- Michael Porter
- Miet Maertens
- N Perdikis
- Natalia G�mez
- Oecd
- P Berizzi
- P Dasgupta
- P Gumbel
- Petra Van De Kop
- Phil Evans
- Pierre Rondot
- R Nolan
- R S Julaniya
- R T Moore
- R Teuber
- Raphael Kaplinsky
- Robert Brauneis
- S Balganesh
- S Boger
- S C Srivastava
- S Goldberg
- S K Soam
- S Laing
- S Nagarajan
- Sachin Chaturvedi
- Sanjay Kumar
- Sarah Bowen
- Sarah F Thorn
- St�phan Marette
- Sven Anders
- T Josling
- T Josling
- T T Tran
- Taipei Times
- Teresa Acampora
- Thomas Decarlo
- Thomas Reardon
- Timothy E. Josling
- Tomer Broude
- Tomer Broude
- Tralac
- Unctad
- Usda-Ers
- Val�rie Boisvert
- Varupi Jain
- Varupi Jain
- Varupi Jain
- Vedaraman Ravi
- W A Kerr
- W A Kerr
- W A Kerr
- William A. Kerr
- Wipo
- Wipo
- Wipo
- Wipo
- Wipo
- Wipo International
- Wipo International
- Wipo International
- Wipo Magazine
- Wto
- Wto
- Wto
- Wto
- Wto
- Wto
- Wto
- Wto
- Wto
- Xiaobing Wang
- Xinhua News Agency
- Publication venue
- 'Elsevier BV'
- Publication date
- 01/01/2009
- Field of study
A Solve-RD ClinVar-based reanalysis of 1522 index cases from ERN-ITHACA reveals common pitfalls and misinterpretations in exome sequencing
- Author
- Abbott Kristin M.
- Abbott Kristin M.
- Afenjar Alexandra
- Agathe Jean-Madeleine de Sainte
- Agathe Jean-Madeleine de Sainte
- Albuisson Juliette
- Alembik Yves
- Alessandri Jean-Luc
- Alexander Elizabeth
- Allamand Valérie
- Alonso García de la Rosa F. Javier
- Amiel Jeanne
- Amram Daniel
- Aretz Stefan
- Atalaia Antonio
- Attie-Bitach Tania
- Baets Jonathan
- Balestrini Simona
- Balicza Peter
- Banfi Sandro
- Banka Siddharth
- Banka Siddharth
- Banka Siddharth
- Baujat Geneviève
- Başak Ayşe Nazlı
- Beeson David
- Beijer Danique
- Bellanger Séverine Audebert
- Beltran Sergi
- Ben Yaou Rabah
- Benetti Elisa
- Benetti Elisa
- Bettolo Chiara Marini
- Bigoni Stefania
- Bitoun Pierre
- Bizaoui Varoona
- Blesson Sophie
- Boer Elke de
- Bongers Ernie
- Bonne Gisèle
- Bonnet-Dupeyron Marie Noëlle
- Bonniaud Bertille
- Bourbouli Mara
- Bournez Marie
- Boute Odile
- Boztug Kaan
- Brookes Anthony J.
- Bros-Facer Virginie
- Bruel Ange-Line
- Bruel Ange-Line
- Brunner Han
- Bullich Gemma
- Busa Tiffany
- Cali Elisa
- Capella Gabriel
- Capri Yline
- Carneiro Fátima
- Carpancea Evelina
- Cartault François
- Cazurro-Gutiérrez Ana
- Chahdil Maroua
- Chassaing Nicolas
- Chiaverini Christine
- Chinnery Patrick F.
- Cilio Maria-Roberta
- Ciolfi Andrea
- Ciolfi Andrea
- Ciolfi Andrea
- Claeys Kristl
- Clayton-Smith Jill
- Clayton-Smith Jill
- Clayton-Smith Jill
- Coarelli Giulia
- Cohen Enzo
- Cohen Enzo
- Colin Estelle
- Colobran Roger
- Colson Cindy
- Cordier-Alex Marie-Pierre
- Cordts Isabell
- Corvo Alberto
- Cossins Judith
- Costa Alessia
- Coubes Christine
- Cusin Véronica
- Dallapiccola Bruno
- Dallapiccola Bruno
- Dallapiccola Bruno
- Danis Daniel
- Danis Daniel
- Davoine Claire-Sophie
- de Boer Elke
- de Boer Elke
- de Boer Elke
- de Jonghe Peter
- De la Paz Manuel Posada
- De Ridder Willem
- de Voer Richarda M.
- de Vries Bert B.A.
- de Vries Geert
- De Winter Jonathan
- Delanne Julian
- Delgado Beatriz Martínez
- Demeer Bénédicte
- Demidov German
- Denommé-Pichon Anne-Sophie
- Denommé-Pichon Anne-Sophie
- Denommé-Pichon Anne-Sophie
- Denommé-Pichon Anne-Sophie
- Depienne Christel
- Depondt Chantal
- Dermaut Bart
- Deschauer Marcus
- Desplantes Claire
- Diene Gwenaëlle
- Dieux-Coeslier Anne
- Dizjikan Farid Yavari
- Doco-Fenzy Martine
- Doležalová Pavla
- Doray Bérénice
- Drouin-Garraud Valérie
- Drunat Séverine
- Duerinckx Sarah
- Duffourd Yannis
- Duffourd Yannis
- Durr Alexandra
- Efthymiou Stephanie
- El Chehadeh Salima
- Ellwanger Kornelia
- Ellwanger Kornelia
- Engelhardt Karin
- Evangeliou Athanasios
- Evangelista Teresinha
- Eymard Bruno
- Faivre Laurence
- Faivre Laurence
- Faivre Laurence
- Fallerini Chiara
- Fallerini Chiara
- Fargeot Anne
- Feillet François
- Ferlini Alessandra
- Fernandes Susana
- Fernandez-Callejo Marcos
- Ferreira Marta
- Ferreira Pedro
- Fradin Mélanie
- Francannet Christine
- Franková Vera
- Freeberg Mallory
- Furini Simone
- Gaillard Dominique
- Gao Fei
- Gao Fei
- Garrido Luzia
- Geneviève David
- Gibson Spencer
- Gilbert-Dussardier Brigitte
- Gilissen Christian
- Gilissen Christian
- Gilissen Christian
- Gilissen Christian
- Giuliano Fabienne
- Goizet Cyril
- Goldenberg Alice
- Graessner Holm
- Graessner Holm
- Grimbacher Bodo
- Grotto Sarah
- Gualandi Francesca
- Guerrini Renzo
- Guerrot Anne-Marie
- Guillot-Noel Léna
- Gullo Irene
- Gumus Gulcin
- Gut Ivo Glynne
- Gérard-Blanluet Marion
- Haack Tobias B.
- Haack Tobias B.
- Haack Tobias B.
- Hackman Peter
- Haimel Matthias
- Hambleton Sophie
- Hanauer Marc
- Hanna Mike
- Hanna Nadine
- Havlovicova Marketa
- Havlovicova Marketa
- Havlovicová Markéta
- Heinzmann Anna
- Hemelsoet Dimitri
- Hengel Holger
- Hernández Carles
- Heron Delphine
- Heron Delphine
- Herzog Rebecca
- Heutink Peter
- Hoischen Alexander
- Hoischen Alexander
- Hoischen Alexander
- Holder-Espinasse Muriel H.
- Holinski-Feder Elke
- Hongnat Oscar
- Hoogerbrugge Nicoline
- Horvath Rita
- Horvath Rita
- Houcinat Nada
- Houlden Henry
- Iacomino Michele
- Isidor Bertrand
- Jackson Adam
- Jackson Adam
- Jackson Adam
- Jacquemin Emmanuel
- Jacquemont Marie-Line
- Janssen Erik
- Jarava Clara Franco
- Jean-Marçais Nolwenn
- Johanson Lennart
- Johansson Lennart
- Johari Mridul
- Johari Mridul
- José Celina São
- Jouk Pierre-Simon
- Jouret Béatrice
- Journel Hubert
- Kamsteeg Erik-Jan
- Kapaki Elisabeth
- Keane Thomas
- Kegele Josua
- Keren Boris
- Kerstjens Frederikse Wilhemina S.
- Kerstjens Mieke
- Kessler Christoph
- Kilic Esra
- Kleefstra Tjitske
- Kleefstra Tjitske
- Kleefstra Tjitske
- Kokosali Evgenia
- Kremliková Radka Pourová
- Köhler Sebastian
- Lacaze Elodie
- Lacombe Didier
- Lacombe Didier
- Laffargue Fanny
- Lagorce David
- Lambert Laëtitia
- Lambros Mathioudakis
- Laner Andreas
- Laudier Béatrice
- Laurie Steven
- Layet Valérie
- Lebreton Emeline
- Lederer Damien
- Lederer Damien
- Lehalle Daphné
- Leheup Bruno
- Leperrier Nathalie
- Lerche Holger
- Lespinasse James
- Li Shuang
- Lišková Petra
- Lochmüller Hanns
- Lochmüller Hanns
- Lohmann Katja
- Lyonnet Stanislas
- López-Martín Estrella
- Macaya Alfons
- Macek Milan
- Macek Milan
- Macek Milan
- Maddi Vatsalya
- Magrinelli Francesca
- Manera Jordi Diaz
- Marcé-Grau Anna
- Marlin Sandrine
- Martinovic Jelena
- Martín Estrella López
- Martín Estrella López
- Mary Sandrine
- Masurel Alice
- Masó Laura Batlle
- Matalonga Leslie
- Matalonga Leslie
- Matalonga Leslie
- Matalonga Leslie
- Mathieu Michèle
- Matos Ana Rita
- Maver Ales
- May Patrick
- Maystadt Isabelle
- Maystadt Isabelle
- Maystadt Isabelle
- Mehtarizadeh Mehdi
- Mei Davide
- Mencarelli Maria Antonietta
- Metay Corinne
- Metcalfe Alison
- Mignot Cyril
- Molin Arnaud
- Molnar Maria Judit
- Morice-Picard Fanny
- Morin Gilles
- Morleo Manuela
- Morleo Manuela
- Morsy Heba
- Morsy Heba
- Moutton Sébastien
- Munell Francina
- Muntoni Francesco
- Musacchia Francesco
- Mutarelli Margherita
- Münchau Alexander
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- Natera de Benito Daniel
- Naudion Sophie
- Neerincx Pieter B.
- Neiva Cecilia
- Nelson Isabelle
- Nelson Isabelle
- Neri Marcella
- Nigro Vicenzo
- Nigro Vincenzo
- Odent Sylvie
- Oliveira Carla
- Osorio Andrés Nascimento
- Ossowski Stephan
- Ousager Lilian Bomme
- Papakonstantinou Anastasios
- Paramonov Ida
- Paramonov Ida
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- Paske Iris te
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- Philippe Christophe
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- Pinelli Michele
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- Pizzi Simone
- Pizzi Simone
- Poirsier Céline
- Polavarapu Kiran
- Poppe Bruce
- Posada Manuel
- Posada Manuel
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- Putoux Audrey
- Pélissier Aurore
- Pérez-Dueñas Belén
- Quélin Chloé
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- Radio Francesca Clementina
- Radio Francesca Clementina
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- Renieri Alessandra
- Renieri Alessandra
- Reversade Bruno
- Riaz Umar
- Riess Olaf
- Riess Olaf
- Riva Antonella
- Robert Glenn
- Robinson Peter
- Robinson Peter
- Roelofs-Prins Dieuwke
- Rohrer Jonathan
- Rooryck Caroline
- Rooryck Caroline
- Rooryck Caroline
- Roos Andreas
- Rossi Massimiliano
- Rossi Rachele
- Ruaud Lyse
- Ruivenkamp Claudia A.L.
- Rump Andreas
- Ruvolo David
- Ryba Lukas
- Ryba Lukas
- Sablauskas Karolis
- Safraou Hana
- Samimi Mahtab
- Sanlaville Damien
- Santen Gijs W.E.
- Sarda Pierre
- Sarkozy Anna
- Sarrazin Elisabeth
- Savarese Marco
- Savarese Marco
- Scala Marcello
- Schaefer Élise
- Scheffer Hans
- Schon Katherine
- Schröck Evelin
- Schuermans Nika
- Schulze-Hentrich Julia M.
- Schwarz Martin
- Schwarz Martin
- Schöls Ludger
- Schüle Rebecca
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- Selvatici Rita
- Shorter Thomas
- Sisodiya Sanjay M.
- Sommer Anna Katharina
- Sorlin Arthur
- Spalding Dylan
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- Spilioti Martha
- Spodenkiewicz Marta
- Steehouwer Marloes
- Steichen Elisabeth
- Steinke-Lange Verena
- Stevanin Giovanni
- Steyaert Wouter
- Steyaert Wouter
- Stojkovic Tanya
- Straub Volker
- Striano Pasquale
- Sturm Marc
- Swertz Morris A.
- Synofzik Matthis
- Sznajer Yves
- Sánchez Eva Bermejo
- Tartaglia Marco
- Tartaglia Marco
- Tartaglia Marco
- te Paske Iris B.A.W.
- Thauvin Christel
- Thauvin Christel
- Thauvin-Robinet Christel
- Thevenon Julien
- Thomas Coline
- Thomasová Dana
- Thompson Rachel
- Timmerman Vincent
- Torella Annalaura
- Torella Annalaura
- Touraine Renaud
- Toutain Annick
- Tran Mau-Them Frédéric
- Traschütz Andreas
- Trimouille Aurelien
- Trimouille Aurélien
- Trimouille Aurélien
- Trimouille Aurélien
- Turnovec Marek
- Töpf Ana
- Töpf Ana
- Udd Bjarne
- Uva Paolo
- Vabres Pierre
- Valle Laura
- Van de Vondel Liedewei
- van de Warrenburg Bart
- van der Velde Joeri K.
- van der Velde Joeri K.
- van der Vries Gerben
- van Gijn Marielle
- Van Kien Philippe Khau
- Van Maldergem Lionel
- van Os Nienke
- Vandrovcova Jana
- Vandrovcova Jana
- Varavallo Alessandra
- Veal Colin
- Verdin Hannah
- Verloes Alain
- Verloes Alain
- Verloes Alain
- Vetro Annalisa
- Vincent Marie
- Vincent-Delorme Catherine
- Vissers Lisenka
- Vissers Lisenka E.L.M.
- Vissers Lisenka E.L.M.
- Vitobello Antonio
- Vitobello Antonio
- Vitobello Antonio
- Vitobello Antonio
- Votypka Pavel
- Votypka Pavel
- W.E Gijs
- Warren Greg
- Wayand Melanie
- Weckhuysen Sarah
- Wells Constance
- Whalen Sandra
- Wilke Carlo
- Willems Marjolaine
- Willemsen Marjolein H.
- Xu Jishu
- Yaldiz Burcu
- Zaganas Ioannis
- Zaharieva Irina
- Zara Federico
- Zguro Kristina
- Zivi Einat
- Zonneveld-Huijssoon Eveline
- Zurek Birte
- Zurek Birte
- ‘t Hoen Peter A.C.
- Publication venue
- 'Elsevier BV'
- Publication date
- 01/01/2023
- Field of study
Purpose
Within the Solve-RD project (https://solve-rd.eu/), the European Reference Network for Intellectual disability, TeleHealth, Autism and Congenital Anomalies aimed to investigate whether a reanalysis of exomes from unsolved cases based on ClinVar annotations could establish additional diagnoses. We present the results of the “ClinVar low-hanging fruit” reanalysis, reasons for the failure of previous analyses, and lessons learned.
Methods
Data from the first 3576 exomes (1522 probands and 2054 relatives) collected from European Reference Network for Intellectual disability, TeleHealth, Autism and Congenital Anomalies was reanalyzed by the Solve-RD consortium by evaluating for the presence of single-nucleotide variant, and small insertions and deletions already reported as (likely) pathogenic in ClinVar. Variants were filtered according to frequency, genotype, and mode of inheritance and reinterpreted.
Results
We identified causal variants in 59 cases (3.9%), 50 of them also raised by other approaches and 9 leading to new diagnoses, highlighting interpretation challenges: variants in genes not known to be involved in human disease at the time of the first analysis, misleading genotypes, or variants undetected by local pipelines (variants in off-target regions, low quality filters, low allelic balance, or high frequency).
Conclusion
The “ClinVar low-hanging fruit” analysis represents an effective, fast, and easy approach to recover causal variants from exome sequencing data, herewith contributing to the reduction of the diagnostic deadlock
Effects of fluoxetine on functional outcomes after acute stroke (FOCUS): a pragmatic, double-blind, randomised, controlled trial
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- Sukhdeep N
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- Sykes L
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- Tam CK
- Tam P-L
- Tandy J
- Tangney R
- Tarkas T
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- Taylor V
- Teal R
- Temlett E
- Tenbruck E
- Tench H
- Thavanesan K
- Thirugnana-Chandran T
- Thomas AL
- Thomas C
- Thomas E
- Thomas L
- Thompson Jones H
- Thompson A
- Thompson J
- Thompson P
- Thomson A
- Thornthwaite S
- Thorpe K
- Tilbey S
- Tinsley S
- Tiwari D
- Todd S
- Tongue R
- Tonks L
- Topia B
- Topliffe J
- Trainor L
- Tribbeck M
- Trippier S
- Trugeon-Smith T
- Tryambake D
- Tsang S-M
- Tucker S
- Turfrey J
- Turner L
- Tysoe S
- Uitenbosch G
- Ullah K
- Umasankar U
- Upton N
- Vahidassr D
- Valentine S
- Van Wijck F
- Varquez R
- Vasileiadis E
- Vassallo J
- Veraque E
- Verrion A
- Vickers C
- Villaruel M
- Vowden R
- Wadams B
- Wade L
- Wahishi I
- Walford J
- Walker E
- Walker P
- Walker R
- Walker S
- Walmsley B
- Walstow D
- Walters A
- Waltho K
- Walton E
- Wands M
- Wanklyn P
- Warburton E
- Ward D
- Ward J
- Ward M
- Wardale A
- Wareing W
- Warinton R
- Watchurst C
- Watkins C
- Watkinson C
- Watson E
- Watson F
- Waugh D
- Waugh D
- Weatherby S
- Webb T
- Webster T
- Weinling M
- Weir N
- Welch A
- Wells B
- Westcott J
- Westmoreland J
- Westmoreland J
- Whitcher A
- White J
- Whitehead L
- Whitehouse S
- Whiting R
- Whitmore P
- Whitworth S
- Wiggam I
- Wightman J
- Wijewardane A
- Wilkinson M
- Wilkinson P
- Willberry A
- Willcoxson P
- Williams C
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- Williams R
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- Williams S
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- Williams-Yesson B
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- Williamson S
- Willmot M
- Wills R
- Willson J
- Wilmshurst N
- Wilson D
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- Wilson J
- Wilson J
- Wilson L
- Wiltshire A
- Withers V
- Wong J
- Wong S
- Wood D
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- Wood E
- Wood L
- Wood P
- Wood P
- Woodford E
- Wright A
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- Wroath B
- Wynn-Williams R
- Wynter I
- Yeomans A
- Yip K
- Young E
- Young R
- Young S
- Zachariah G
- Zhang L
- Publication venue
- 'Elsevier BV'
- Publication date
- 01/01/2019
- Field of study
Background
Results of small trials indicate that fluoxetine might improve functional outcomes after stroke. The FOCUS trial aimed to provide a precise estimate of these effects.
Methods
FOCUS was a pragmatic, multicentre, parallel group, double-blind, randomised, placebo-controlled trial done at 103 hospitals in the UK. Patients were eligible if they were aged 18 years or older, had a clinical stroke diagnosis, were enrolled and randomly assigned between 2 days and 15 days after onset, and had focal neurological deficits. Patients were randomly allocated fluoxetine 20 mg or matching placebo orally once daily for 6 months via a web-based system by use of a minimisation algorithm. The primary outcome was functional status, measured with the modified Rankin Scale (mRS), at 6 months. Patients, carers, health-care staff, and the trial team were masked to treatment allocation. Functional status was assessed at 6 months and 12 months after randomisation. Patients were analysed according to their treatment allocation. This trial is registered with the ISRCTN registry, number ISRCTN83290762.
Findings
Between Sept 10, 2012, and March 31, 2017, 3127 patients were recruited. 1564 patients were allocated fluoxetine and 1563 allocated placebo. mRS data at 6 months were available for 1553 (99·3%) patients in each treatment group. The distribution across mRS categories at 6 months was similar in the fluoxetine and placebo groups (common odds ratio adjusted for minimisation variables 0·951 [95% CI 0·839–1·079]; p=0·439). Patients allocated fluoxetine were less likely than those allocated placebo to develop new depression by 6 months (210 [13·43%] patients vs 269 [17·21%]; difference 3·78% [95% CI 1·26–6·30]; p=0·0033), but they had more bone fractures (45 [2·88%] vs 23 [1·47%]; difference 1·41% [95% CI 0·38–2·43]; p=0·0070). There were no significant differences in any other event at 6 or 12 months.
Interpretation
Fluoxetine 20 mg given daily for 6 months after acute stroke does not seem to improve functional outcomes. Although the treatment reduced the occurrence of depression, it increased the frequency of bone fractures. These results do not support the routine use of fluoxetine either for the prevention of post-stroke depression or to promote recovery of function.
Funding
UK Stroke Association and NIHR Health Technology Assessment Programme
Abstracts from the 20th International Symposium on Signal Transduction at the Blood-Brain Barriers
- Author
- A. Appelt-Menzel
- A. Bach
- A. Cubukova
- Abdurashitov Arkady
- Agata Krawczynska
- Aleksandra Szczepkowska
- Alekseeva Anna
- Alena Michalicova
- Alexa Fries
- Alexander Reitner
- Alexandra Bocsik
- Alla B. Salmina
- Alon Friedman
- Alon Friedman
- Alwin Kamermans
- Ana C. Calpena
- Ana Maria Teixeira
- Ana Pombero
- Ana Raquel Santa Maria
- Ana Rita Bras
- Ana-Maria Pilbat
- Andrea Fuso
- Andrej Kovac
- Andrey V. Morgun
- Andrzej Malecki
- Andrzej Małecki
- Andrzej P. Herman
- András Dér
- András Harazin
- András Kincses
- Anika Hartz
- Anna Gerhartl
- Anna Huber
- Anna Schönegger
- Anne Iltzsche
- Arkadiusz Liskiewicz
- Armelle Klopstein
- Arzu Temizyürek
- Attila E. Farkas
- Birger Brodin
- Bodrova Madina
- Boytsova Elizaveta
- Bragin Denis
- Brigitta Dukay
- Britta Engelhardt
- Bucharskaya Alla
- Bülent Ahıshalı
- C. J. Czupalla
- Canan Uğur Yılmaz
- Candan Gürses
- Carsten Uhd Nielsen
- Catherine E Angel
- Cherubino Di Lorenzo
- Chih-Chieh Tsao
- Chris Greene
- Christina Christoffersen
- Christina Dilling
- Christina Simoglou Karali
- Claus U. Surma
- Colin P. Doherty
- Conor Delaney
- Csilla Fazakas
- Daisuke Watanabe
- Dan Milikovsky
- Dan T Kho
- Daniel A. Lawrence
- Daniel C. Anthony
- Daniela Kasprowska-Liśkiewicz
- David A. Antonetti
- David Bueno
- David Francisco
- David J Begley
- David M. F. Francisco
- David Male
- Dionna W. Williams
- Dmitri Sisario
- Dror Rosenbach
- Dóra Lipka
- E. Fidan
- E. Scott Graham
- Edith Filaire
- Edward A. Neuwelt
- Edyta Skonieczna
- Elena A. Pozhilenkova
- Elena D. Khilazheva
- Elizaveta B. Boytsova
- Emmanuel Sevin
- Enming Joe Su
- Eoin Kelly
- Eoin O’Keefe
- Eugene Wallace
- Fabien Gosselet
- Fang Niu
- Ferenc Fenyvesi
- Franco Laccone
- Fruzsina Walter
- Galina P. Martynova
- Gekalyuk Artem
- Gerald A. Grant
- Gergő Porkoláb
- Gijs Kooij
- Gizem Nur Şahin
- Guohua Xi
- Guy Bar-Klein
- H. Gerhardt
- H. Zieliński
- Hannes Steinkellner
- Hans Christian Helms
- Helga E de Vries
- Helga E. de Vries
- Helle Sønderby Waagepetersen
- Hong Ye
- Ignacio A. Romero
- Imola Wilhelm
- Inez Fręśko
- Isabelle Gruber
- István A. Krizbai
- J. Macas
- Jack van Horssen
- James F. Meaney
- Jamie Lim
- Janina Skipor
- Janina Skipor-Lahuta
- Jaroslav Galba
- Jennifer Pereira
- Jens Pahnke
- Jianming Xiang
- Joan W. Berman
- John Kealy
- John Kealy
- Jordi Garcia-Fernàndez
- Josephin Wagner
- Judit Váradi
- Judit Vígh
- Julia Baumann
- János Haskó
- K. Devraj
- K. H. Plate
- K. Strømgaard
- Karl Schoknecht
- Kathrin Hahn
- Kenta Ujifuku
- Khilazheva Elena
- Khorovodov Alexander
- Kinga G. Blecharz
- Kinga Molnár
- Krisztina Nagy
- Krzysztof Kucharz
- Krzysztof Milewski
- Kurths Jürgen
- Lars Bo Nielsen
- Lars Winkler
- Laurence Fenart
- Lester R. Drewes
- Lisa J. Routhe
- Luca Marchetti
- Lucia Celkova
- Luciele Guerra Minuzzi
- Luis Federico Batiz
- Lydia Gabbert
- Lyna Solomon-Kamintsky
- László Puskás
- Lívia Fülöp
- Lóránd Kiss
- M. Kristensen
- M. Metzger
- M. Surma
- Magdalena Zielińska
- Malgorzata Burek
- Malinovskaya Nataliya
- Manuel Sarmiento Soto
- Marcelle Silva de Abreu
- Maria A. Deli
- Maria Luisa García
- Marian M. Humphries
- Mariangela Corsi
- Marta Espina
- Marta Kowalewska
- Marta Martinez-Morga
- Marta Nowacka-Chmielewska
- Marta Obara-Michlewska
- Marta Przybyla
- Marta Skowronska
- Martin Lauritzen
- Matheus Uba Chupel
- Matthew Campbell
- Mehmet Kaya
- Melinda E. Tóth
- Melissa A. Lopes-Pinheiro
- Mette Mathiesen Janiurek
- Michael Farrell
- Michael G. Molloy
- Michal Novak
- Michal Toborek
- Michal Toborek
- Mihály Kozma
- Mike Veenstra
- Mikio Furuse
- Miklós Sántha
- Miklós Vecsernyés
- Minseon Park
- Morgun Andrey
- Mutlu Küçük
- Mária A. Deli
- Mária Mészáros
- Müge Atış
- N. Joan Abbott
- Nadir Arıcan
- Natalie Hudson
- Navolokin Nikita
- Neli Bounzina
- Niall Pender
- Niamh Doyle
- Nicola R. Sibson
- Nicole Kachappilly
- Nikolay Kutuzov
- Nikolett Lénárt
- Niloufar Zarghami
- Nobutaka Horie
- Nurcan Orhan
- Ofer Prager
- Omolara O. Ogunshola
- Omolara Ogunshola
- Pavlov Valery
- Peter Vajkoczy
- Petra Majerova
- Pietra Candela
- Poyraz Düzgün
- Péter Galajda
- Péter Nagyőszi
- R. Fischer
- Ralph M. Garruto
- Raquel Garcia-Lopez
- Rebecca H Johnson
- Remy Bruggmann
- Richard F. Keep
- Richard Kovács
- Rita Businaro
- Romain Versele
- Ronel Veksler
- Rosiris Leon Rivera
- Rouhollah Khodadust
- Ruth Lyck
- Ruud Fontijn
- Rémy Bruggmann
- S. Guérit
- S. Liebner
- S. Thom
- Sabela Rodríguez-Lorenzo
- Sabrina Engelhardt
- Sagatova Artem
- Salmin Vladimir
- Salmina Alla
- Salvador Martinez
- Samar Osmen
- Sandra Mihaljevic
- Sarah Doyle
- Semyachkina-Glushkovskaya Oxana
- Serkan Emik
- Serçin Karahüseyinoğlu
- Shareef Ali Esmat
- Sheng-Fu Huang
- Shilpa Buch
- Shinsuke Nakagawa
- Shirokov Alexander
- Shushunova Anastasia
- Sidar Aydin
- Simon J O’Carroll
- Steffen Storck
- Stephanie Hughes
- Susan Morgello
- Svetlana Drndarski
- Szilvia Veszelka
- Sándor Valkai
- Takashi Fujimoto
- Takayuki Matsuo
- Takeo Anda
- Torben Moos
- Tsuyoshi Izumo
- Tuchin Artem
- Udi Vazana
- Ulanova Mariya
- Ulf Schneider
- Umut Deniz Ceylan
- Ursula Wyneken
- Uğur Akcan
- Victor Castro
- Vilmos Tubak
- Vinton Cheng
- Vladimir Soukhoroukov
- Vodovozova Elena
- Wendy W.J. Unger
- Winfried Neuhaus
- Ya Hua
- Yana V. Gorina
- Yang Yirong
- Yoichi Morofuji
- Yvonne Couch
- Z. Giżejewski
- Zsolt Bozsó
- Zsolt Radak
- Zsolt Török
- Zsófia Hoyk
- Ádám Nyúl-Tóth
- Ágnes Kittel
- Ágnes Zvara
- Publication venue
- 'Springer Science and Business Media LLC'
- Publication date
- 01/10/2017
- Field of study
https://deepblue.lib.umich.edu/bitstream/2027.42/138963/1/12987_2017_Article_71.pd
Twist exome capture allows for lower average sequence coverage in clinical exome sequencing
- Author
- Abbott Kristin M.
- Alexander Elizabeth
- Allamand Valérie
- Aretz Stefan
- Atalaia Antonio
- Baets Jonathan
- Balestrini Simona
- Balicza Peter
- Banfi Sandro
- Banka Siddharth
- Başak Ayşe Nazlı
- Beeson David
- Beijer Danique
- Beltran Sergi
- Benetti Elisa
- Bettolo Chiara Marini
- Bigoni Stefania
- Bijlsma Emilia K.
- Bonne Gisèle
- Bourbouli Mara
- Boztug Kaan
- Brookes Anthony J.
- Bros-Facer Virginie
- Bruel Ange-Line
- Brunner Han
- Bullich Gemma
- Cali Elisa
- Capella Gabriel
- Carneiro Fátima
- Carpancea Evelina
- Cazurro-Gutiérrez Ana
- Chahdil Maroua
- Chinnery Patrick F.
- Cilio Maria-Roberta
- Ciolfi Andrea
- Claeys Kristl
- Clayton-Smith Jill
- Coarelli Giulia
- Cohen Enzo
- Colobran Roger
- consortium Solve-R. D.
- Cordts Isabelle
- Corominas Galbany Jordi
- Corvo Alberto
- Cossins Judith
- Costa Alessia
- Dallapiccola Bruno
- Danis Daniel
- Davoine Claire-Sophie
- de Benito Daniel Natera
- de Boer Elke
- de Jonghe Peter
- De la Paz Manuel Posada
- de la Rosa F. Javier Alonso García
- De Ridder Willem
- de Sainte Agathe Jean-Madeleine
- de Voer Richarda M.
- de Vries Geert
- De Winter Jonathan
- Delgado Beatriz Martínez
- Demidov German
- Denommé-Pichon Anne-Sophie
- Depienne Christel
- Depondt Chantal
- Dermaut Bart
- Deschauer Marcus
- Dizjikan Farid Yavari
- Doležalová Pavla
- Drunat Séverine
- Duerinckx Sarah
- Duffourd Yannis
- Durr Alexandra
- Efthymiou Stephanie
- Ellwanger Kornelia
- Engelhardt Karin
- Evangeliou Athanasios
- Evangelista Teresinha
- Eymard Bruno
- Faivre Laurence
- Fallerini Chiara
- Ferlini Alessandra
- Fernandes Susana
- Fernandez-Callejo Marcos
- Ferreira Marta
- Ferreira Pedro
- Franková Vera
- Frederikse Wilhemina Skerstjens
- Freeberg Mallory
- Furini Simone
- Gao Fei
- Garrido Luzia
- Gibson Spencer
- Gilissen Christian
- Gilissen Christian
- Graessner Holm
- Grimbacher Bodo
- Gualandi Francesca
- Guerrini Renzo
- Guillot-Noel Léna
- Gullo Irene
- Gumus Gulcin
- Gut Ivo Glynne
- Haack Tobias B.
- Hackman Peter
- Haimel Matthias
- Hambleton Sophie
- Hampstead Juliet
- Hanauer Marc
- Hanna Mike
- Havlovicová Markéta
- Heinzmann Anna
- Hemelsoet Dimitri
- Hengel Holger
- Hernández Carles
- Heron Delphine
- Herzog Rebecca
- Heutink Peter
- Hoen Peter A. C. T
- Hoffer Mariette J. V.
- Hofste Tom
- Hoischen Alexander
- Hoischen Alexander
- Holinski-Feder Elke
- Hongnat Oscar
- Hoogerbrugge Nicoline
- Horvath Rita
- Houlden Henry
- Iacomino Michele
- Jackson Adam
- Janssen Erik
- Jarava Clara Franco
- Johansson Lennart
- Johari Mridul
- José Celina São
- Kamsteeg Erik-Jan
- Kapaki Elisabeth
- Keane Thomas
- Kegele Josua
- Keren Boris
- Kessler Christoph
- Kleefstra Tjitske
- Kokosali Evgenia
- Kremliková Radka Pourová
- Kucuk Erdi
- Köhler Sebastian
- Lacombe Didier
- Lagorce David
- Lambros Mathioudakis
- Laner Andreas
- Laurie Steven
- Lebreton Emeline
- Lederer Damien
- Lerche Holger
- Lišková Petra
- Lochmüller Hanns
- Lochmüller Hanns
- Lohmann Katja
- Macaya Alfons
- Macek Milan
- Maddi Vatsalya
- Magrinelli Francesca
- Manera Jordi Diaz
- Marcé-Grau Anna
- Martín Estrella López
- Mary Sandrine
- Masó Laura Batlle
- Matalonga Leslie
- Matos Ana Rita
- Maver Ales
- May Patrick
- Maystadt Isabelle
- Mehtarizadeh Mehdi
- Mei Davide
- Metay Corinne
- Metcalfe Alison
- Mignot Cyril
- Molnar Maria Judit
- Morleo Manuela
- Morsy Heba
- Munell Francina
- Muntoni Francesco
- Musacchia Francesco
- Mutarelli Margherita
- Münchau Alexander
- Neerincx Pieter B.
- Nelen Marcel
- Nelson Isabelle
- Neri Marcella
- Nigro Vincenzo
- Oliveira Carla
- Osorio Andrés Nascimento
- Ossowski Stephan
- Papakonstantinou Anastasios
- Paramonov Ida
- Parkinson Helen
- Patch Christine
- Pauly Martje
- Pelaez Jose Garcia
- Peterlin Borut
- Peters Sophia
- Peyron Christine
- Pfundt Rolph
- Picó Daniel
- Piluso Giulio
- Pinelli Michele
- Piscia Davide
- Pizzi Simone
- Polavarapu Kiran
- Poppe Bruce
- Pélissier Aurore
- Pérez-Dueñas Belén
- Radio Francesca Clementina
- Rath Ana
- Ratnaike Thiloka
- Reilly Mary
- Renieri Alessandra
- Riaz Umar
- Riess Olaf
- Rinne Tuula
- Riva Antonella
- Robert Glenn
- Robinson Peter
- Roelofs-Prins Dieuwke
- Rohrer Jonathan
- Rooryck Caroline
- Roos Andreas
- Rossi Rachele
- Ruivenkamp Claudia A. L.
- Rump Andreas
- Ruvolo David
- Sablauskas Karolis
- Santen Gijs W. E.
- Sarkozy Anna
- Savarese Marco
- Scala Marcello
- Scheffer Hans
- Schon Katherine
- Schröck Evelin
- Schuermans Nika
- Schulze-Hentrich Julia M.
- Schöls Ludger
- Schüle Rebecca
- Scudieri Paolo
- Selvatici Rita
- Shorter Thomas
- Sisodiya Sanjay M.
- Sommer Anna Katharina
- Spalding Dylan
- Spier Isabel
- Spilioti Martha
- Steehouwer Marloes
- Steinke-Lange Verena
- Stevanin Giovanni
- Steyaert Wouter
- Stojkovic Tanya
- Straub Volker
- Striano Pasquale
- Sturm Marc
- Swertz Morris A.
- Synofzik Matthis
- Sznajer Yves
- Sánchez Eva Bermejo
- Tartaglia Marco
- te Paske Iris
- Thauvin Christel
- Thomas Coline
- Thomasová Dana
- Thompson Rachel
- Timmerman Vincent
- Torella Annalaura
- Traschütz Andreas
- Trimouille Aurelien
- Turnovec Marek
- Töpf Ana
- Udd Bjarne
- Uva Paolo
- Valle Laura
- Van de Vondel Liedewei
- van de Warrenburg Bart
- van der Velde Joeri K.
- van der Vries Gerben
- van Gijn Marielle
- van Os Nienke
- Vandrovcova Jana
- Varavallo Alessandra
- Veal Colin
- Verdin Hannah
- Verloes Alain
- Vetro Annalisa
- Vissers Lisenka E. L. M.
- Vitobello Antonio
- Warren Greg
- Wayand Melanie
- Weckhuysen Sarah
- Wilke Carlo
- Xu Jishu
- Yaldiz Burcu
- Yaldiz Burcu
- Yaou Rabah Ben
- Yntema Helger G.
- Zaganas Ioannis
- Zaharieva Irina
- Zara Federico
- Zonneveld-Huijssoon Eveline
- Zurek Birte
- Publication venue
- 'Springer Science and Business Media LLC'
- Publication date
- 01/01/2023
- Field of study
Background Exome and genome sequencing are the predominant techniques in the diagnosis and research of genetic disorders. Sufficient, uniform and reproducible/consistent sequence coverage is a main determinant for the sensitivity to detect single-nucleotide (SNVs) and copy number variants (CNVs). Here we compared the ability to obtain comprehensive exome coverage for recent exome capture kits and genome sequencing techniques. Results We compared three different widely used enrichment kits (Agilent SureSelect Human All Exon V5, Agilent SureSelect Human All Exon V7 and Twist Bioscience) as well as short-read and long-read WGS. We show that the Twist exome capture significantly improves complete coverage and coverage uniformity across coding regions compared to other exome capture kits. Twist performance is comparable to that of both short- and long-read whole genome sequencing. Additionally, we show that even at a reduced average coverage of 70× there is only minimal loss in sensitivity for SNV and CNV detection. Conclusion We conclude that exome sequencing with Twist represents a significant improvement and could be performed at lower sequence coverage compared to other exome capture techniques
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