R
Roderic Guigó
Researcher at Pompeu Fabra University
Publications - 475
Citations - 121421
Roderic Guigó is an academic researcher from Pompeu Fabra University. The author has contributed to research in topics: Computer science & Gene. The author has an hindex of 108, co-authored 304 publications receiving 106914 citations. Previous affiliations of Roderic Guigó include University of Barcelona & Harvard University.
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Journal ArticleDOI
Effect of predicted protein-truncating genetic variants on the human transcriptome
Manuel A. Rivas,Matti Pirinen,Donald F. Conrad,Monkol Lek,Emily K. Tsang,Konrad J. Karczewski,Julian Maller,Kimberly R. Kukurba,David S. DeLuca,Menachem Fromer,Pedro G. Ferreira,Kevin S. Smith,Rui Zhang,Fengmei Zhao,Eric Banks,Ryan Poplin,Douglas M. Ruderfer,Shaun Purcell,Taru Tukiainen,Eric Vallabh Minikel,Peter D. Stenson,David Neil Cooper,Katharine H. Huang,Timothy J. Sullivan,Jared L. Nedzel,Carlos Bustamante,Jin Billy Li,Mark J. Daly,Roderic Guigó,Peter Donnelly,Kristin G. Ardlie,Michael Sammeth,Emmanouil T. Dermitzakis,Mark I. McCarthy,Stephen B. Montgomery,Tuuli Lappalainen,Daniel G. MacArthur,Daniel G. MacArthur +37 more
TL;DR: The transcriptome effects of protein-truncating variants, a class of variants expected to have profound effects on gene function, are characterized using data from the Genotype-Tissue Expression (GTEx) and Geuvadis projects to illustrate the value of transcriptome data in the functional interpretation of genetic variants.
Journal ArticleDOI
Transcriptional diversity during lineage commitment of human blood progenitors
Lu Chen,Lu Chen,Lu Chen,Myrto Kostadima,Myrto Kostadima,Myrto Kostadima,Joost H.A. Martens,Giovanni Canu,Giovanni Canu,Sara P. Garcia,Sara P. Garcia,Ernest Turro,Ernest Turro,Kate Downes,Kate Downes,Iain C. Macaulay,Ewa Bielczyk-Maczyńska,Ewa Bielczyk-Maczyńska,Sophia Coe,Sophia Coe,Samantha Farrow,Samantha Farrow,Pawan Poudel,Pawan Poudel,Frances Burden,Frances Burden,Sjoert B. G. Jansen,Sjoert B. G. Jansen,William J. Astle,William J. Astle,Antony P. Attwood,Antony P. Attwood,Tadbir K. Bariana,Bernard de Bono,Bernard de Bono,Alessandra Breschi,John C. Chambers,John C. Chambers,Fizzah A. Choudry,Fizzah A. Choudry,Laura Clarke,Paul Coupland,Martijn van der Ent,Wendy N. Erber,Joop H. Jansen,Rémi Favier,Matthew Fenech,Nicola Foad,Nicola Foad,Kathleen Freson,Chris Van Geet,Keith Gomez,Roderic Guigó,Daniel Hampshire,Daniel Hampshire,Anne M. Kelly,Anne M. Kelly,Anne M. Kelly,Hindrik H. D. Kerstens,Jaspal S. Kooner,Jaspal S. Kooner,Michael Laffan,Claire Lentaigne,Charlotte Labalette,Charlotte Labalette,Tiphaine Martin,Tiphaine Martin,Tiphaine Martin,Stuart Meacham,Stuart Meacham,Andrew D Mumford,Sylvia T. Nurnberg,Sylvia T. Nurnberg,Emilio Palumbo,Bert A. van der Reijden,David J. Richardson,Stephen John Sammut,Greg Slodkowicz,Asif U. Tamuri,Louella Vasquez,Katrin Voss,Katrin Voss,Stephen Watt,Sarah K Westbury,Paul Flicek,Paul Flicek,Remco Loos,Nick Goldman,Paul Bertone,Paul Bertone,Randy J. Read,Sylvia Richardson,Ana Cvejic,Ana Cvejic,Nicole Soranzo,Nicole Soranzo,Willem H. Ouwehand,Willem H. Ouwehand,Willem H. Ouwehand,Hendrik G. Stunnenberg,Mattia Frontini,Mattia Frontini,Augusto Rendon,Augusto Rendon +103 more
TL;DR: A previously undetected layer of regulation affecting cell fating is unveiled, which involves transcriptional isoforms switching without noticeable changes at the gene level and resulting in the gain or loss of protein functions in blood cells involved in the immune system.
Journal ArticleDOI
Domains of genome-wide gene expression dysregulation in Down/'s syndrome
Audrey Letourneau,Federico Santoni,Ximena Bonilla,M. Reza Sailani,David Gonzalez,Jop Kind,Claire Chevalier,Robert E. Thurman,Richard Sandstrom,Youssef Hibaoui,Marco Garieri,Konstantin Popadin,Emilie Falconnet,Maryline Gagnebin,Corinne Gehrig,Anne Vannier,Michel Guipponi,Laurent Farinelli,Daniel Robyr,Eugenia Migliavacca,Christelle Borel,Samuel Deutsch,Anis Feki,John A. Stamatoyannopoulos,Yann Herault,Bas van Steensel,Roderic Guigó,Stylianos E. Antonarakis +27 more
TL;DR: The results indicate that the nuclear compartments of trisomic cells undergo modifications of the chromatin environment influencing the overall transcriptome, and that GEDDs may therefore contribute to some trisomy 21 phenotypes.
Journal ArticleDOI
A General Definition and Nomenclature for Alternative Splicing Events
TL;DR: A computational tool (AStalavista) is developed that automatically characterizes the complete landscape of AS events in a given transcript annotation of a genome, thus providing a platform to investigate the transcriptome diversity across genes, chromosomes, and species.
Journal ArticleDOI
Genome-wide profiling of the cardiac transcriptome after myocardial infarction identifies novel heart-specific long non-coding RNAs
Samir Ounzain,Rudi Micheletti,Tal Beckmann,Blanche Schroen,Michael Alexanian,Iole Pezzuto,Stefania Crippa,Mohamed Nemir,Alexandre Sarre,Rory Johnson,Jérôme Dauvillier,Frédéric Burdet,Mark Ibberson,Roderic Guigó,Ioannis Xenarios,Stephane Heymans,Thierry Pedrazzini +16 more
TL;DR: Hundreds of novel heart-specific lncRNAs with unique regulatory and functional characteristics relevant to maladaptive remodelling, cardiac function and possibly cardiac regeneration are revealed.