TitleDateAuthorsDOI
Genome-wide association study identifies loci on 12q24 and 13q32 associated with Tetralogy of Fallot2013-04-01Cordell, HJ; Töpf, A; Mamasoula, C; Postma, AV; Bentham, J; Zelenika, D; Heath, S; Blue, G; Cosgrove, C; Riveron, JG; Darlay, R; Soemedi, R; Wilson, I (2013). Genome-wide association study identifies loci on 12q24 and 13q32 associated with Tetralogy of Fallot. Human Molecular Genetics, 22(7), 1473-1481. DOI: 10.1093/hmg/dds552https://doi.org/10.1093/hmg/dds552
Dissecting structural and nucleotide genome-wide variation in inbred Iberian pigs2013-03-05Esteve-Codina, A; Paudel, Y; Ferretti, L; Raineri, E; Megens, HJ; Silió, L; Rodríguez, MC; Groenen, MAM; Ramos-Onsins, SE; Pérez-Enciso, M (2013). Dissecting structural and nucleotide genome-wide variation in inbred Iberian pigs. Bmc Genomics, 14(), 148-148. DOI: 10.1186/1471-2164-14-148https://doi.org/10.1186/1471-2164-14-148
Structure-based statistical analysis of transmembrane helices2013-03-01Baeza-Delgado, C; Marti-Renom, MA; Mingarro, I (2013). Structure-based statistical analysis of transmembrane helices. European Biophysics Journal With Biophysics Letters, 42(2-3), 199-207. DOI: 10.1007/s00249-012-0813-9https://doi.org/10.1007/s00249-012-0813-9
High-Specificity Single-Tube Multiplex Genotyping Using Ribo-PAP PCR, Tag Primers, Alkali Cleavage of RNA/DNA Chimeras and MALDI-TOF MS2013-01-01Mauger, F; Gelfand, DH; Gupta, A; Bodepudi, V; Will, SG; Bauer, K; Myers, TW; Gut, IG (2013). High-Specificity Single-Tube Multiplex Genotyping Using Ribo-PAP PCR, Tag Primers, Alkali Cleavage of RNA/DNA Chimeras and MALDI-TOF MS. Human Mutation, 34(1), 266-273. DOI: 10.1002/humu.22227https://doi.org/10.1002/humu.22227
Positive Selection in Nucleoporins Challenges Constraints on Early Expressed Genes in Drosophila Development2013-01-01Mensch, J; Serra, F; Lavagnino, NJ; Dopazo, H; Hasson, E (2013). Positive Selection in Nucleoporins Challenges Constraints on Early Expressed Genes in Drosophila Development. Genome Biology And Evolution, 5(11), 2231-2241. DOI: 10.1093/gbe/evt156https://doi.org/10.1093/gbe/evt156
The GEM mapper: fast, accurate and versatile alignment by filtration2012-12-01Marco-Sola, S; Sammeth, M; Guigó, R; Ribeca, P (2012). The GEM mapper: fast, accurate and versatile alignment by filtration. Nature Methods, 9(12), 1185-U76. DOI: 10.1038/nmeth.2221https://doi.org/10.1038/NMETH.2221
CpG islands and GC content dictate nucleosome depletion in a transcription-independent manner at mammalian promoters2012-12-01Fenouil, R; Cauchy, P; Koch, F; Descostes, N; Cabeza, JZ; Innocenti, C; Ferrier, P; Spicuglia, S; Gut, M; Gut, I; Andrau, JC (2012). CpG islands and GC content dictate nucleosome depletion in a transcription-independent manner at mammalian promoters. Genome Research, 22(12), 2399-2408. DOI: 10.1101/gr.138776.112https://doi.org/10.1101/gr.138776.112
Modelling and simulating generic RNA-Seq experiments with the flux simulator2012-11-01Griebel, T; Zacher, B; Ribeca, P; Raineri, E; Lacroix, V; Guigó, R; Sammeth, M (2012). Modelling and simulating generic RNA-Seq experiments with the flux simulator. Nucleic Acids Research, 40(20), 10073-10083. DOI: 10.1093/nar/gks666https://doi.org/10.1093/nar/gks666
Epigenomic analysis detects widespread gene-body DNA hypomethylation in chronic lymphocytic leukemia2012-11-01Kulis, M; Heath, S; Bibikova, M; Queirós, AC; Navarro, A; Clot, G; Martínez-Trillos, A; Castellano, G; Brun-Heath, I; Pinyol, M; Barberán-Soler, S; Pa (2012). Epigenomic analysis detects widespread gene-body DNA hypomethylation in chronic lymphocytic leukemia. Nature Genetics, 44(11), 1236-1242. DOI: 10.1038/ng.2443https://doi.org/10.1038/ng.2443
The EvA study: aims and strategy2012-10-01Ziegler-Heitbrock, L; Frankenberger, M; Heimbeck, I; Burggraf, D; Wjst, M; Häussinger, K; Brightling, C; Gupta, S; Parr, D; Subramanian, D; Singh, D; (2012). The EvA study: aims and strategy. European Respiratory Journal, 40(4), 823-829. DOI: 10.1183/09031936.00142811https://doi.org/10.1183/09031936.00142811
SNP calling by sequencing pooled samples2012-09-20Raineri, E; Ferretti, L; Esteve-Codina, A; Nevado, B; Heath, S; Pérez-Enciso, M (2012). SNP calling by sequencing pooled samples. Bmc Bioinformatics, 13(239), 239-. DOI: 10.1186/1471-2105-13-239https://doi.org/10.1186/1471-2105-13-239
Polar/Ionizable Residues in Transmembrane Segments: Effects on Helix-Helix Packing2012-09-12Bañó-Polo, M; Baeza-Delgado, C; Orzáez, M; Marti-Renom, MA; Abad, C; Mingarro, I (2012). Polar/Ionizable Residues in Transmembrane Segments: Effects on Helix-Helix Packing. Plos One, 7(9), e44263-. DOI: 10.1371/journal.pone.0044263https://doi.org/10.1371/journal.pone.0044263
Landscape of transcription in human cells2012-09-06Djebali, S; Davis, CA; Merkel, A; Dobin, A; Lassmann, T; Mortazavi, A; Tanzer, A; Lagarde, J; Lin, W; Schlesinger, F; Xue, CH; Marinov, GK; Khatun, J; (2012). Landscape of transcription in human cells. Nature, 489(7414), 101-108. DOI: 10.1038/nature11233https://doi.org/10.1038/nature11233
An integrated encyclopedia of DNA elements in the human genome2012-09-06Dunham, I; Kundaje, A; Aldred, SF; Collins, PJ; Davis, C; Doyle, F; Epstein, CB; Frietze, S; Harrow, J; Kaul, R; Khatun, J; Lajoie, BR; Landt, SG; Lee (2012). An integrated encyclopedia of DNA elements in the human genome. Nature, 489(7414), 57-74. DOI: 10.1038/nature11247https://doi.org/10.1038/nature11247
A mechanistic basis for amplification differences between samples and between genome regions2012-09-05Veal, CD; Freeman, PJ; Jacobs, K; Lancaster, O; Jamain, S; Leboyer, M; Albanes, D; Vaghela, RR; Gut, I; Chanock, SJ; Brookes, AJ (2012). A mechanistic basis for amplification differences between samples and between genome regions. Bmc Genomics, 13(1), 455-. DOI: 10.1186/1471-2164-13-455https://doi.org/10.1186/1471-2164-13-455
An association study of sequence variants in the forkhead box P2 (FOXP2) gene and adulthood attention-deficit/hyperactivity disorder in two European samples2012-08-01Ribasés, M; Sánchez-Mora, C; Ramos-Quiroga, JA; Bosch, R; Gómez, N; Nogueira, M; Corrales, M; Palomar, G; Jacob, CP; Gross-Lesch, S; Kreiker, S; Reif, (2012). An association study of sequence variants in the forkhead box P2 (FOXP2) gene and adulthood attention-deficit/hyperactivity disorder in two European samples. Psychiatric Genetics, 22(4), 155-160. DOI: 10.1097/YPG.0b013e328353957ehttps://doi.org/10.1097/YPG.0b013e328353957e
Neutrality Tests for Sequences with Missing Data2012-08-01Ferretti, L; Raineri, E; Ramos-Onsins, S (2012). Neutrality Tests for Sequences with Missing Data. Genetics, 191(4), 1397-U511. DOI: 10.1534/genetics.112.139949https://doi.org/10.1534/genetics.112.139949
The genome of melon (Cucumis melo L.)2012-07-17Garcia-Mas, J; Benjak, A; Sanseverino, W; Bourgeois, M; Mir, G; González, VM; Hénaff, E; Câmara, F; Cozzuto, L; Lowy, E; Alioto, T; Capella-Gutiérrez, (2012). The genome of melon (Cucumis melo L.). Proceedings Of The National Academy Of Sciences Of The United States Of America, 109(29), 11872-11877. DOI: 10.1073/pnas.1205415109https://doi.org/10.1073/pnas.1205415109
Spinal Muscular Atrophy Associated with Progressive Myoclonic Epilepsy Is Caused by Mutations in ASAH12012-07-13Zhou, J; Tawk, M; Tiziano, FD; Veillet, J; Bayes, M; Nolent, F; Garcia, V; Servidei, S; Bertini, E; Castro-Giner, F; Renda, Y; Carpentier, S; Andrieu- (2012). Spinal Muscular Atrophy Associated with Progressive Myoclonic Epilepsy Is Caused by Mutations in ASAH1. American Journal Of Human Genetics, 91(1), 5-14. DOI: 10.1016/j.ajhg.2012.05.001https://doi.org/10.1016/j.ajhg.2012.05.001
Distinct DNA methylomes of newborns and centenarians2012-06-26Heyn, H; Li, N; Ferreira, HJ; Moran, S; Pisano, DG; Gomez, A; Diez, J; Sanchez-Mut, JV; Setien, F; Carmona, FJ; Puca, AA; Sayols, S; Pujana, MA; Serra (2012). Distinct DNA methylomes of newborns and centenarians. Proceedings Of The National Academy Of Sciences Of The United States Of America, 109(26), 10522-10527. DOI: 10.1073/pnas.1120658109https://doi.org/10.1073/pnas.1120658109