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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The status of the human gene catalogue
Paulo P. Amaral,S. Carbonell-Sala,Francisco M. De La Vega,Tiago Faial,Adam Frankish,Thomas R. Gingeras,Roderic Guigó,Jennifer Harrow,Artemis G. Hatzigeorgiou,Rory Johnson,Terence Murphy,Mihaela Pertea,Kim D. Pruitt,Shashikant Pujar,Hazuki Takahashi,Igor Ulitsky,Ales Varabyou,Christine A. Wells,Mark Yandell,P. Carninci,Steven L. Salzberg +20 more
TL;DR: A combination of recent advances offers a path forward to identifying these functions and towards eventually completing the human gene catalogue as discussed by the authors . But much work remains to be done before we have a universal annotation standard that includes all medically significant genes, maintains their relationships with different reference genomes, and describes clinically relevant genetic variants.