11 research outputs found
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
- Nambot Sophie
- 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
- Parent Philippe
- Parkinson Helen
- Paske Iris te
- Passemard Sandrine
- Patch Christine
- Paul Carle
- Pauly Martje
- Pelaez Jose Garcia
- Perrin Laurence
- Perthus Isabelle
- Peterlin Borut
- Peters Sophia
- Petit Florence
- Peyron Christine
- Pfundt Rolph
- Phan Alice
- Philip Nicole
- Philippe Christophe
- Picó Daniel
- Piluso Giulio
- Pinelli Michele
- Pinelli Michele
- Pinson Lucile
- Piscia Davide
- Pizzi Simone
- Pizzi Simone
- Pizzi Simone
- Poirsier Céline
- Polavarapu Kiran
- Poppe Bruce
- Posada Manuel
- Posada Manuel
- Prieur Fabienne
- Putoux Audrey
- Pélissier Aurore
- Pérez-Dueñas Belén
- Quélin Chloé
- Radio Francesca C.
- Radio Francesca Clementina
- Radio Francesca Clementina
- Rath Ana
- Ratnaike Thiloka
- Reilly Mary
- Renaud Mathilde
- Renieri Alessandra
- 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
- Scudieri Paolo
- Selvatici Rita
- Shorter Thomas
- Sisodiya Sanjay M.
- Sommer Anna Katharina
- Sorlin Arthur
- Spalding Dylan
- Spier Isabel
- 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
The synthesis of S-adenosylmethionine by mutants with defects in S-adenosylmethionine synthetase
- Author
- A. Ahmed
- A. Raina
- A.C. Hobson
- A.C. Hobson
- A.C. Hobson
- A.C. Minson
- A.M. Colson
- B.N. Ames
- C. Colson
- C.J. Abshire
- D.A. Lawrence
- D.A. Smith
- D.R. Morris
- D.T. Dubin
- E.E. Sercatz
- F. Schlenk
- F. Schlenk
- H. Tabor
- H.O. Smith
- J. Schell
- J.A. Duerre
- J.A. Duerre
- J.B. Lombardini
- J.H. Mudd
- K.F. Chater
- M. Meselson
- R.C. Greene
- R.C. Greene
- S. Rosenthal
- S.K. Shapiro
- T.-C. Chou
- Publication venue
- 'Springer Science and Business Media LLC'
- Publication date
- Field of study
Altered contractility of skeletal muscle in mice deficient in titin's M-Band region
- Author
- Agarkova
- Berchtold
- Bodine
- Bruton
- Capote
- Carlos Hidalgo
- Centner
- Coen A.C. Ottenheijm
- Colson
- Colson
- Craig
- Fabiato
- Flashman
- Fukuzawa
- Gong
- Gordon
- Gotthardt
- Gramolini
- Granzier
- Granzier
- Granzier
- Gregorio
- Hackman
- Han
- Henk Granzier
- Hidalgo
- Hofmann
- Hofmann
- Katharina Rost
- Labeit
- Lange
- Lange
- Locker
- Luther
- Matar
- Maughan
- Mayans
- McCormick
- McElhinny
- Metzger
- Michael Gotthardt
- Moss
- Ottenheijm
- Ottenheijm
- Peng
- Peng
- Pinniger
- Puchner
- Stelzer
- Tupling
- Van den Bergh
- Wang
- Warren
- Weinert
- Winegrad
- Yang
- Yu
- Zhi
- Publication venue
- Publication date
- 01/01/2009
- Field of study
We investigated the contractile phenotype of skeletal muscle deficient in the titin's M-band exons MEx1 and MEx2 (KO) by using the cre-lox recombination system and a multidisciplinary physiological approach to study skeletal muscle contractile performance. At a maximal tetanic stimulation frequency, intact KO EDL muscle was able to produce wildtype levels of force. However, at submaximal stimulation frequency force was reduced in KO mice giving rise to a rightward shift of the force-frequency curve. This rightward shift of the force-frequency curve could not be explained by altered sarcoplasmic reticulum Ca(2+)handling as indicated by analysis of Ca(2+)transients in intact myofibers and expression of Ca(2+)handling proteins, but can be explained by the reduced myofilament Ca(2+)sensitivity of force generation that we found. Western blotting experiments suggested that the excision of titin exons MEx1 and MEx2 did not result in major changes in expression of titin M-band binding proteins or phosphorylation level of the thin filament regulatory proteins, but rather in a shift towards expression of slow isoforms of the thick filament-associated protein myosin binding protein-C (MyBP-C). Extraction of MyBP-C from skinned muscle normalized myofilament Ca(2+)sensitivity of KO EDL muscle. Thus, our data suggest that the M-band region of titin affects the expression of genes involved in the regulation of skeletal muscle contraction
Implications of mortality and morbidity for health care delivery in Ghana.
- Author
- Publication venue
- 'Wiley'
- Publication date
- Field of study
Kwakwaka'Wakw Museology
- Author
- Assu H.
- Barbara Saunders
- Baudrillard J.
- Benedict R.
- Boas F.
- Boas F.
- Boelscher M.
- Bölscher M.
- Carpenter C.H.
- Clifford J.
- Clifford J.
- Clifford J.
- Codere H.
- Codere H.
- Cohen A.P.
- Cole D.
- Colson E.
- Danto A.C.
- Dewy J.
- Douglas M.
- Drucker P.
- Drucker P.
- Eliade M.
- Ford C.
- Godelier M.
- Goldman I.
- Gough B.M.
- Graburn N.H.H.
- Greenfield J.
- Grunfeld F.V.
- Halliday W.M.
- Handler R.
- Hawthorn H.
- Kan S.
- Kuper A.
- LaViolette F.
- Lurie N.O.
- Lévi-Strauss C.
- MacIntyre A.
- MacLeod W.C.
- Macnair P.L.
- Mauss M.
- McEvilley T.
- McFeat T.
- Michaelson D.R.
- Mozino J.M.
- Olson R.L.
- Rappaport R.A.
- Rosman A.
- Sapir E.
- Schulte-Tenckhoff I.
- Scott R.C.
- Sewid-Smith D.
- Spradley J.P.
- Stewart S.
- Stocking G.W., Jr
- Sturtevant W.C.
- Suttles W.
- Taylor H.
- Titley E.
- Vastokas J.
- Wade E.L.
- Webster G.C.
- Woodcock G.
- Publication venue
- 'SAGE Publications'
- Publication date
- Field of study
Home Brewed Alcohol use Among High School Students in a Rural South African Community
- Author
- Amey C. H.
- Bhana A.
- Catalano R. F.
- Colson E.
- Curry R.
- Du Toit B. M.
- Duncan T. E.
- Eide A. H.
- Flisher A. J.
- Flisher A. J.
- Flisher A. J.
- Flisher A.J.
- Gumede M. V.
- Heath D.
- Horton D.
- Jones S. P.
- Knodel J.
- Lankshear A. J.
- Leite J. S.
- Madu S. N.
- Marshall M.
- Morojele N.
- Morojele N. K.
- Morojele N. K.
- Morojele N. K.
- Nkonzo-Mtembu L. L.
- O'Malley P.
- Odejide O. A.
- Onya H. E.
- Parry C. D. H.
- Parry C. D. H.
- Parry C. D. H.
- Parry C.D.H.
- Parry C.D.H.
- Partanen J.
- Peltzer K.
- Peltzer K.
- Peltzer K.
- Peltzer K.
- Pluddemann A.
- Reddy S. P.
- Robins L.
- Rocha-Silva L.
- Schmidt J. J.
- Shucksmith J.
- Single E.
- Strauss A.L.
- Swadi H.
- Wagenaar A. C.
- Wagenaar A.C.
- Wolcott H. F.
- Wyllie A.
- Ziervogel C. F.
- Ziervogel C. F.
- Publication venue
- 'Informa UK Limited'
- Publication date
- Field of study
A Cross-Cultural Study of Modesty
- Author
- A.C. Hollis
- A.M. Hocart
- Allan Holmberg
- Araucanians (Chile)
- Azande (Sudan)*
- B. Gutmann
- Bang Chan
- Beatrice Blackwood
- Bemba
- Benjamin Paul
- Bettelheim Bruno
- Bronislaw Malinowski
- Campbell Joseph
- Charles Dundas
- Cheyenne
- Christoph von Fürer-Haimendorf
- Copper Eskimo
- Cora DuBois
- Crawley Ernest
- David
- David Maybury-Lewis
- Douglas Oliver
- E. Kathleen Cough
- E. Kathleen Cough
- E.J. Krige
- Edwin Smith
- Elizabeth Colson
- Ellis Albert
- Ellis Havelock
- Ernest Kalibala
- Evans-Pritchard E.E.
- F.E. Williams
- Fr. Joseph Henry
- Fr. Paul Schebesta
- Geoffrey Gorer
- George Devereaux
- Goulbourn Island
- Gregory Bateson
- Gunnar Landtman
- H. Ian Hogbin
- Hamed Ammar
- Havelock Ellis
- Henri A. Junod
- Hildred Ceertz
- Hortense Powdermaker
- Hugh Ashton
- Ireland
- Irwin T. Sanders
- Joel M. Halpern
- John Embree
- John Roscoe
- John Whiting
- Jomo Kenyatta Facing Mount
- Kenneth Read
- Kipsigis (Kenya)
- L.S.B. Leakey
- Laura Thompson
- Laurence Wylie
- Leigh Mintum Triandis
- Lewis Oscar
- Louis G. Faron
- Lucy Mair
- M.G. Smith
- Manning Nash
- Manus
- Margaret Mead
- Margaret Mead
- Marquesas (Polynesia)*
- Martin Yang
- Max Gluckman
- Meek C.K.
- Melville Herskovits
- Monica Wilson
- Morris Carstairs
- Morris Opler
- Morris Opler
- Nur Yalman
- Olga Linares
- Peristiany J.G.
- Pierre Bourdieu
- R.S. Rattray
- R.S. Rattray
- Raymond Firth
- Raymond Firth
- Reo Fortune
- Robert C. Suggs
- Robert LeVine
- Ronald Berndt
- Ruth Landes
- Rwala Bedouin
- S.F. Nadel
- Sachs Curt
- Stephens William
- Sumner William Grant
- Swahili (Somalia
- Taylor G. Rattray
- Tepoztlan
- Thomas Gladwin
- Thomas William I.
- Tom Brown
- Valle
- Verrier Elwin
- Verrier Elwin
- W. Lloyd Warner
- W.I. Thomas
- William Davenport
- William G. Sumner
- William Lessa
- Wilson Wallis
- Zulu
- Publication venue
- 'SAGE Publications'
- Publication date
- Field of study
Large expert-curated database for benchmarking document similarity detection in biomedical literature search
- Publication venue
- 'Oxford University Press (OUP)'
- Publication date
- 01/01/2019
- Field of study
Document recommendation systems for locating relevant literature have mostly relied on methods developed a decade ago. This is largely due to the lack of a large offline gold-standard benchmark of relevant documents that cover a variety of research fields such that newly developed literature search techniques can be compared, improved and translated into practice. To overcome this bottleneck, we have established the RElevant LIterature SearcH consortium consisting of more than 1500 scientists from 84 countries, who have collectively annotated the relevance of over 180 000 PubMed-listed articles with regard to their respective seed (input) article/s. The majority of annotations were contributed by highly experienced, original authors of the seed articles. The collected data cover 76% of all unique PubMed Medical Subject Headings descriptors. No systematic biases were observed across different experience levels, research fields or time spent on annotations. More importantly, annotations of the same document pairs contributed by different scientists were highly concordant. We further show that the three representative baseline methods used to generate recommended articles for evaluation (Okapi Best Matching 25, Term Frequency-Inverse Document Frequency and PubMed Related Articles) had similar overall performances. Additionally, we found that these methods each tend to produce distinct collections of recommended articles, suggesting that a hybrid method may be required to completely capture all relevant articles. The established database server located at https://relishdb.ict.griffith.edu.au is freely available for the downloading of annotation data and the blind testing of new methods. We expect that this benchmark will be useful for stimulating the development of new powerful techniques for title and title/abstract-based search engines for relevant articles in biomedical science. © The Author(s) 2019. Published by Oxford University Press
VII. Bibliography
- Author
- Achtemeier P.J.
- Achtemeier P.J.
- Achtemeier P.J.
- Achtemeier P.J.
- Achtemeier P.J.
- Almqvist H.
- Alt
- Alt
- Annen F.
- Aune D.E.
- Aune D.E.
- Bailey J. L.
- Bammel
- Bartlett D.L.
- Barton G.A.
- Bauer P.
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- Friedrich G.
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- Georgi D.
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- Greeven H.
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- Group
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- Guttmann
- Gutwenger E.
- Güttgemanns E.
- Güttgemanns E.
- Güttgemanns E.
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- Hanson J.A.
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- Hegermann
- Heinemann I.
- Heitmüller W.
- Held H.J.
- Hengel M.
- Hengel M.
- Henrichs
- Herzog R.
- Holladay C. R.
- Holladay C.R.
- Honko L.
- Honko L.
- Hornig G.
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- Institut
- Jacoby F.
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- Jennings W.
- Jeremias J.
- Jirku A.
- Jobling D.
- Jobling D.
- Johnson L.T.
- Jones W.H.S.
- Jüttner G.
- Kanda S. H.
- Katholisches
- Kee H. C.
- Kee H. C.
- Kertelge K.
- Kertelge K.
- Kilian R.
- Kirchschläger W.
- Kleinknecht H.
- Klostermann E.
- Koehler L.
- Koehler L.
- Kolenkow A.B.
- Kollesch J.
- Kollmann
- Korol D.
- Kosmala H.
- Kratz R.
- Kremers H.
- Kreyenbuhl J.
- Krüger H.P.
- Kudlien F.
- Kudlien F.
- Kudlien F.
- Kudlien F.
- Kudlien F.
- Kudlien F.
- Käsemann
- Köster H.
- Kötting B.
- Kümmel W.G.
- Kümmel W.G.
- Le Bonnieg H.
- Leeper E.A.
- Legasse S.
- Leipoldt J.
- Leon-Dufour X.
- Leon-Dufour X.
- Levi-Strauss C.
- Levy J.
- Liddell H.G.
- Lindars B.
- Lindner M.
- Lisowsky G.
- Lohmeyer E.
- Lohse
- Long B. O.
- Long B. O.
- Long B. O.
- Luck G.
- Luck G.
- Luz U.
- Löffler I.
- Lührmann D.
- Maier J.
- Maisch I.
- Margolis M. L.
- Martin F.
- McCasland S.v.
- McCasland S.v.
- McGinley L.J.
- Meyer E.
- Meyer R.
- Mills E.
- Milne P. J.
- Milot L.
- Moore C. H.
- Moule C.F.D.
- Moule C.F.D.
- Muehll P.
- Murray A.T.
- Müller K.
- Nehrbass R.
- Neirynck F.
- Nestle Eb.
- Neusner J.
- Neusner J.
- Noy D.
- Oepke
- Oldfather C.H.
- Osswaldt E.
- Patte D.
- Patte D.
- Patte D.
- Patte D.
- Peek W.
- Pereis O.
- Perrin B.
- Pesch R.
- Pesch R.
- Pesch R.
- Peterson
- Petzke G.
- Petzke G.
- Petzke G.
- Petzke G.
- Pfister F.
- Pike K. L.
- Preisendanz K.
- Preisendanz K.
- Preisigke F.
- Pritchard J.
- Pritchard J.B.
- Propp V.
- Puech E.
- Rahlfs A.
- Rehm M.
- Rehm M.
- Reitzenstein R.
- Rengstorf H.
- Rengstorf H.
- Richter W.
- Robbins V.
- Rogers B.B.
- Rolfe J. C.
- Roloff J.
- Rosenthal F.
- Rüttimann R.J.
- Sabourin L
- Sandmel S.
- Sandys J.
- Schenke L.
- Schille G.
- Schille G.
- Schille G.
- Schlatter
- Schmidt K. L.
- Schmithals W.
- Schmithals W.
- Scholfield A. F.
- Scholtissek K.
- Schottroff W.
- Schubert K.
- Seybold K.
- Seybold K.
- Smith M.
- Smith M.
- Stipp H.
- Stowasser J. M.
- Strack H. L.
- Strauss D.Fr.
- Strecker G.
- Suhl A.
- Sullivan J. P.
- Taylor V.
- Thackeray H.St.J.
- Thackeray H.St.J.
- Theißen G.
- Thiel I.
- Thraede K.
- Tiede D.L.
- Trümmer P.
- Turiot C.
- Vermes G.
- Vermes G.
- Vogel C.
- von Sydow
- von Sydow
- Wachsmuth D.
- Walter N.
- Weber R.
- Wegner U.
- Weimar P.
- Weinreich O.
- Weinreich O.
- Weinreich O.
- Wendland P.
- Wenham D.
- Westermann C.
- Wettstein J.
- Wevers J.W.
- Wevers J.W.
- Wiefel W.
- Winkler J. J.
- Wire A.C.
- Wounde A.S.
- Würthwein
- Zahavy T.
- Zeller D.
- Ziegler J.
- Zintzen C.
- Zintzen C.
- Zintzen C.
- Zmiejewski J.
- ΑΝΤΊ
- Publication venue
- 'Vandenhoeck & Ruprecht GmbH & Co, KG'
- Publication date
- Field of study
Canada
- Author
- A. Amprimoz
- A. Amprimoz
- A. Blott
- A. Boutelle
- A. Brodie
- A. Feder
- A. Gandolfo
- A. Purdy
- A. Roche
- A.C. Stewart
- A.D. Armitage
- A.E. Davidson
- A.W. Riley
- Acland Lois
- Alianak Hrant
- Allen Robert
- Amprimoz Alexandre
- Andrus David
- Annand Alan Mark
- Aquin Hubert
- Ardies Tom
- Atwood Margaret
- Atwood Margaret
- Aubert Rosemary
- Austin Don
- Avery Martin
- Avison Margaret
- Avison Margaret
- B. Cameron
- B. Daurio
- B. Davies
- B. Fawcett
- B. Godard
- B. Hehner
- B. Kingstone with
- B. Rasporich
- B. Wood
- B. Wood
- B.M. Ewing
- Bailey Alfred G.
- Bailey Bill
- Barbour Douglas
- Bartlett Brian
- Bartlette Sandra
- Bauer William
- Beissel Henry
- Beresford-Howe Constance
- Berton Pierre
- Biderman Ruth
- Bonnie Fred
- Bowering George
- Bowie Douglas
- Boyarsky Abraham
- Brownlow Edward William
- Bullock Michael
- Burns Mary
- Buyukmihci H.S.
- C. Belkin
- C. Hosek
- C. Pagnoulle
- C. Pollack
- C. Rosen
- C. Thomas
- C.H. Gervais
- C.L. Smiley
- C.T. Bissell
- Calder Ruth
- Callaghan Morley
- Canadian
- Carman Bliss
- Carr Emily
- Castillo Charles
- Clark Joan
- Clute John
- Cohen Leonard
- Cohen Matt
- Collier Diana G.
- Colson Theodore
- Corning Emilia
- Crowe Eleanor
- Crowell Peter
- Cuevas Ernesto
- Cull David
- D. Arnason
- D. Barbour
- D. Barbour
- D. Barbour
- D. Bessai
- D. Bessai
- D. Day
- D. Edmonds
- D. Godfrey
- D. Kent
- D. Ketterer
- D. Latham
- D. Livesay
- D. Livesay
- D. Mantz
- D. Mantz
- D. Rubin.
- D.E.D. Downey
- D.J. Dooley
- D.W. Russell
- D.W. Russell
- Dabydeen Cyril
- Dagg Mel
- Davies Ken
- Davies Robertson
- Davies Robertson
- Dawson Fielding
- Denison Merrill
- Deverell Rex
- Dewdney Chris
- Dickinson Don
- Dickinson Mary Lou
- Doran Jane
- Doubt Bryan
- Drabek Jan
- Dudek Louis
- Duncan Sara Jeannette
- Dunmore Spencer
- E. Cameron
- E. Jewinski
- E. Mandel
- E. Mandel
- E. Seidner
- E. Wachtel
- Eggleston Wilfrid
- Egyedi Bela
- Eirikson Irene
- Elves Hazel
- Engel Howard
- Engel Marian
- Enright William
- Evans Cicely Louise
- Everson R.G.
- F. Birbalsingh
- F. Cogswell
- F. Davey
- F. Spitzer
- F. Spoerly
- F. Teague
- Fagan Cary
- Fawcett Brian
- Fawcett Brian
- Fawcett Brian
- Ferguson Trevor
- Ferron Jacques
- Finkenbine Mark
- Fischman Sheila
- Fletcher Peggy
- Fobes Greg
- Ford Cathy
- Frye Northrop
- Frye Northrop
- Fuchs Terry
- G. Geddes
- G. Geddes
- G. Hancock
- G. Hancock
- G. Hancock
- G. Marcotte
- G. McWhirter
- G. Melnyk
- G. Murray
- G. Ryga
- G. Ryga
- G. Woodcock
- G. Woodcock
- G. Woodcock
- Gallant Mavis
- Galt John
- Garsonnin Eric
- Garwood Lana
- Gatenby Greg
- Gauvreau Claude
- Gibbs Robert
- Gilbert Gerry
- Gillis Susan
- Godfrey Dave
- Goldsmith Oliver
- Gorman LeRoy
- Gould Terry
- Govier Katherine
- Gregg John
- Greig Hugh
- Grove Frederick Philip
- Gutteridge Don
- Gérin-Lajoie Antoine
- H. de Santana
- H. Porter
- H.G. Edinger
- Haggerty Joan
- Haig-Brown Roderick
- Haliburton Thomas Chandler
- Haliburton Thomas Chandler
- Halko Irene
- Hall Chipman
- Halperin Irving
- Hamilton Pierce Stevens
- Hamilton Susan L.
- Hardy Isabeth
- Harlow Robert
- Harris John
- Harris Paula
- Harrison Devin
- Hayman Robert
- Heide Christopher
- Heide Christopher
- Hekkanen Ernest
- Hendry Tom
- Hendry Tom
- Hendry Tom
- Hiebert Paul
- Hill Kathy
- Hine Daryl
- Hodgins Jack
- Hollingshead Greg
- Hollingsworth Margaret
- Hood Hugh
- Hooper Mollie
- Horst Roger
- Hosein Jennifer
- Howe Joseph
- Howells Annie
- Hubert Cam
- Hubert Cam
- Huggan Isabel
- Huser Glen
- Hutchison Joe
- Hébert Anne
- I. Balfour
- I. Carrington
- I. Young
- Ingram Alyce
- Ireland Ann
- J. Ball
- J. Baxter
- J. David
- J. Hofsess
- J. Hofsess
- J. Lye
- J. Mallinson
- J. Neufeld
- J. Pivato
- J. Reaney
- J. Sowby
- J.C. Green
- J.H. Rosenburg
- J.M. Kertzer
- J.M. Yates
- J.M. Zezulka
- J.R. Struthers
- J.W. Foster
- J.W. Watson
- Jarvis Thomas Stinson
- Jewinski Hans
- Jiles Paulette
- Johnson G. Bertha
- Jonas George
- Jonas George
- Julian Marilyn
- K. Echlin
- K. Norris
- K. Norris
- K. Radu
- K. Russell
- K. Thompson
- K.J. Hughes
- K.P. Stich
- Keenleyside T.A.
- Kemp Penny
- Kemp Penny
- Kertes Joseph
- Kidd Flora
- Kirby William
- Kleiman Ed'
- Klein A.M.
- Knox Alexander
- Konyves Tom
- Konyves Tom
- Kreisel Henry
- Kreisel Henry
- Kroetsch Robert
- Kumin Maxine
- L. McMullen
- L. Sandler
- L.B. Meckler
- L.C. Gottlieb
- L.M. Shirinian
- Lamb Murray
- Landy Francis
- Lane John
- Lauder Scott
- Laurence Margaret
- Lavoie Stephanie
- Layton Aviva
- Layton Irving
- Layton Irving
- Leacock Stephen
- Leckie Keith
- Lee Dennis
- Lemm Richard
- Leprohon Rosanna
- LeSueur William
- Levis Deanna
- Lewis Ruth C.
- Lipkis Jeff
- Livesay Dorothy
- Longmore George
- Loomer L.S.
- Lowry Margerie Bonner
- Lowther Pat
- M. Acorn
- M. Acorn
- M. Anderson
- M. Atwood
- M. Atwood
- M. Bowering
- M. Boweririg
- M. Dorsinville
- M. Ford
- M. Kennedy
- M. Macina
- M. McLuhan
- M. Micros
- M. Page
- M. Page
- M. Ross
- M. Vipond
- M. Zola
- M.B. Oliver
- M.C. Wilson
- M.G. Hesse
- MacCormack Terry
- Macphail Andrew
- Madott Darlene
- Mahood Maurice
- Mandel Eli
- Mandrake Jill
- Marcotte Gilles
- Margoshes Dave
- Marlatt Daphne
- Marlatt Daphne
- Marshall Joyce
- Marshall Tom
- Mason Mike
- Mathews Laurence
- Mayhew Vic
- McClellan Pat
- McClung Nellie
- McCurry Jim
- McFadden David
- McFadden David
- McKenzie Earl
- McKinnon Barry
- McLean Anne
- McLean James S.
- McLuhan Marshall
- Metcalf John
- Metcalf John
- Mills John
- Minions Stephen
- Mitchell Ken
- Mitchell W.O.
- Mombourquette Michael
- Moore Brian
- Moore Brian
- Moore Ken
- Morton Lionel
- Mowat Farley
- Mrkich Dan
- Munro Alice
- Munro Alice
- Murphy Jeremiah V.
- Musgrave Susan
- N. Carson
- N.W. Fraser
- Neil Al
- Newlove. John
- Nichol B.P.
- Nichol B.P.
- Nichol B.P.
- Nightingale Christine
- Nowlan Alden
- Nowlan Alden
- Nutting Leslie
- O'Flaherty Patrick
- Oates Joyce
- Oates Joyce Carol
- Okun Nicole
- Ondaatje Michael
- Ondaatje Michael
- Ord Douglas
- Orde Lewis
- P. Baltensperger
- P. Hay
- P. Hunt
- P. Monk
- P. Morley
- P. Morley
- P. Quartermain
- P. Stevens
- P. Stevens
- P. Thompson.
- P.F. McNally
- Palmer John
- Parsons Fay
- Petersen Olive MacKay
- Plantos Ted
- Powell Craig
- Pratt E.J.
- Purdy A.
- R. Cameron
- R. Cluett
- R. Fulford
- R. Huebert
- R. LaBonte
- R. Mathews
- R. Page
- R. Siemens
- R. Skelton
- R. Smith
- R. Stuart
- R. Sutherland
- R.A. Lecker
- R.A. Lecker
- R.D. MacDonald
- Raddall Thomas H.
- Radu Kenneth
- Reaney James
- Richards David
- Riches Brenda
- Richler Mordecai
- Riddell John
- Riis Sharon
- Ringwood Gwen Pharis
- Ritter Erika
- Roberts Charles G.D.
- Roberts Charles G.D.
- Roberts Kevin
- Robertson Don
- Robin Skelton
- Robin Donald M.
- Robinson Spider
- Rogers Linda
- Rohmer Richard
- Rooke Constance
- Rose Mildred A.
- Ross D.
- Ross James
- Ross Veronica
- Ross W.W.E.
- Rosta Helen
- Rowdon Larry
- S. Bonnycastle
- S. Clarkson
- S. Djwa
- S. Hatfield
- S. Martin
- S. Morrison
- S. Nagarajan
- S. Solecki
- S. Solecki
- S. Symons
- S.E. Grace
- S.J. Wilson
- Salmaniw Stephen
- Sandor Karl
- Sangster Charles
- Saul John
- Schoemperlen Diane
- Schroeder Andreas
- Schweers Gordon
- Scott Duncan Campbell
- Scott Duncan Campbell
- Scott F.R.
- Seal Graham
- Service Robert W.
- Seton Ernest Thompson
- Seán Virgo
- Sharpe. David
- Sherman K.J.
- Sherman Ken
- Sherrin Robert G.
- Shields Carol
- Shirinian Lorne M.
- Simmie Lois
- Simpson Gregg
- Simpson Leo
- Slater Ian
- Smith A.J.M.
- Smith D.C.
- Smith D.L.M.
- Souster Raymond
- Stange Kenneth
- Staniforth Richard
- Station F.
- Stead Robert
- Stein David
- Stein Louise
- Stenson Fred
- Stephen Sid
- Stevens Peter
- Stevenson Lionel
- Stewart A.C.
- Sturmanis Dona
- Such
- Suthren Victor
- Symons Scott
- Symons T.H.B.
- Szumigalski Anne
- T. Hendry
- T. Marshall
- T. Marshall
- T. Marshall
- T. Marshall
- T. Quigley
- T. Stephenson
- T. Wayman
- T.D. MacLulich
- T.D. MacLulich
- T.E. Tausky
- T.Q. Dombrowski
- Teed Roy
- Templeton Charles
- Thomas Audrey
- Thompson James
- Thompson John R.
- Thompson Kent
- Tippett Maria
- Tocque Philip
- Traill Catherine Parr
- Tupper Dorothy
- V. Boland
- Valgardson W.D.
- Valgardson W.D.
- Van der Schel Sjors
- Van Dyck Henry
- Van Rjndt Philippe
- Virgo Sean
- Vlahov Ed
- W. Cude
- W. Cude
- W. Kirkconnell
- W. Pache
- W.H. New
- W.H. New
- Wade John Stevens
- Walker Doris
- Walters Harold N.
- Waltner-Toews David
- Ward Frederick
- Watmough David
- Watt F.W.
- Weinzweig Helen
- Wheatley Patience
- White Marilyn
- Whyte Don
- Wiebe Armin
- Wiebe Rudy
- Wilford M.
- Wilson Ethel
- Windsor Robert
- Woodcock George
- Wreggitt Andrew
- Wright Doug
- Wright Richard B.
- Wynand Derk
- Young David
- Publication venue
- 'SAGE Publications'
- Publication date
- Field of study