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Characterization of large structural genetic mosaicism in human autosomes

Machiela, Mitchell J.; Real, Francisco X.; Rodríguez Santiago, Benjamín; Pérez Jurado, Luis Alberto; Chanock, Stephen J. (Elsevier, 2015)
InvFEST, a database integrating information of polymorphic inversions in the human genome

Martínez Fundichely, Alexander, 1978-; Casillas, Sònia; Egea, Raquel; Ràmia, Miquel; Barbadilla, Antonio; Pantano Rubiño, Lorena, 1982-; Puig, Marta; Cáceres Aguilar, Mario (Oxford University Press, 2014)
High trans-ethnic replicability of GWAS results implies common causal variants

Marigorta, Urko M.; Navarro i Cuartiellas, Arcadi, 1969- (Public Library of Science (PLoS), 2013)
Combining RT-PCR-seq and RNA-seq to catalog all genic elements encoded in the human genome

Howald, Cédric; Tanzer, Andrea; Chrast, Jacqueline; Kokocinski, Felix; Derrien, Thomas; Walters, Nathalie; González, José M.; Frankish, Adam; Aken, Bronwen; Hourlier, Thibaut; Vogel, Jan-Hinnerk; White, Simon; Searle, Stephen; Harrow, Jennifer; Hubbard, Tim J.; Guigó Serra, Roderic; Reymond, Alexandre (Cold Spring Harbor Laboratory Press (CSHL Press), 2012)
Deep sequencing of subcellular RNA fractions shows splicing to be predominantly co-transcriptional in the human genome but inefficient for lncRNAs

Tilgner, Hagen, 1980-; Knowles, David G.; Johnson, Rory; Davis, Carrie A.; Chakrabortty, Sudipto; Djebali, Sarah; Curado, Joao; Snyder, Michael; Gingeras, Thomas R.; Guigó Serra, Roderic (Cold Spring Harbor Laboratory Press (CSHL Press), 2012)
GENCODE: the reference human genome annotation for The ENCODE Project

Harrow, Jennifer; Tanzer, Andrea; Guigó Serra, Roderic; Hubbard, Tim J. (Cold Spring Harbor Laboratory Press (CSHL Press), 2012)
Uncovering adaptive evolution in the human lineage

Gayà Vidal, Magdalena; Albà Soler, Mar (BioMed Central, 2014)
Global diversity, population stratification, and selection of human copy-number variation

Sudmant, Peter H.; Eichler, Evan E.; Comas, David, 1969- (American Association for the Advancement of Science (AAAS), 2015)
Analysis of the multi-copy gene family FAM90A as a copy number variant in different ethnic backgrounds

Bosch Pagès, Nina; Escaramís, Geòrgia; Mercader Bigas, Josep Maria; Armengol i Dulcet, Lluís; Estivill, Xavier, 1955- (Elsevier, 2008)
La computació i el projecte genoma humà

Guigó Serra, Roderic (Centre de Supercomputació de Catalunya, 1995)