TitleDateReferenceDOI
Pathway and network analysis of more than 2500 whole cancer genomes2020-02-05Reyna, MA; Haan, D; Paczkowska, M; Verbeke, LPC; Vazquez, M; Kahraman, A; Pulido-Tamayo, S; Barenboim, J; Wadi, L; Dhingra, P; Shrestha, R; Getz, G; L (2020). Pathway and network analysis of more than 2500 whole cancer genomes. Nature Communications, 11(1), 729-. DOI: 10.1038/s41467-020-14367-0https://doi.org/10.1038/s41467-020-14367-0
A deep learning system accurately classifies primary and metastatic cancers using passenger mutation patterns2020-02-05Jiao, W; Atwal, G; Polak, P; Karlic, R; Cuppen, E; Danyi, A; de Ridder, J; van Herpen, C; Lolkema, MP; Steeghs, N; Getz, G; Morris, Q; Stein, LD (2020). A deep learning system accurately classifies primary and metastatic cancers using passenger mutation patterns. Nature Communications, 11(1), 728-. DOI: 10.1038/s41467-019-13825-8https://doi.org/10.1038/s41467-019-13825-8
Reconstructing evolutionary trajectories of mutation signature activities in cancer using TrackSig2020-02-05Rubanova, Y; Shi, RA; Harrigan, CF; Li, RJ; Wintersinger, J; Sahin, N; Deshwar, A; Morris, Q (2020). Reconstructing evolutionary trajectories of mutation signature activities in cancer using TrackSig. Nature Communications, 11(1), 731-. DOI: 10.1038/s41467-020-14352-7https://doi.org/10.1038/s41467-020-14352-7
Combined burden and functional impact tests for cancer driver discovery using DriverPower2020-02-05Shuai, SM; Gallinger, S; Stein, L (2020). Combined burden and functional impact tests for cancer driver discovery using DriverPower. Nature Communications, 11(1), 734-. DOI: 10.1038/s41467-019-13929-1https://doi.org/10.1038/s41467-019-13929-1
Integrative pathway enrichment analysis of multivariate omics data2020-02-05Paczkowska, M; Barenboim, J; Sintupisut, N; Fox, NS; Zhu, H; Abd-Rabbo, D; Mee, MW; Boutros, PC; Reimand, J (2020). Integrative pathway enrichment analysis of multivariate omics data. Nature Communications, 11(1), 735-. DOI: 10.1038/s41467-019-13983-9https://doi.org/10.1038/s41467-019-13983-9
Divergent mutational processes distinguish hypoxic and normoxic tumours2020-02-05Bhandari, V; Li, CH; Bristow, RG; Boutros, PC (2020). Divergent mutational processes distinguish hypoxic and normoxic tumours. Nature Communications, 11(1), 737-. DOI: 10.1038/s41467-019-14052-xhttps://doi.org/10.1038/s41467-019-14052-x
Alazami syndrome: the first case of papillary thyroid carcinoma2020-02-01Ivanovski, I; Caraffi, SG; Magnani, E; Rosato, S; Pollazzon, M; Matalonga, L; Piana, S; Nicoli, D; Baldo, C; Bernasconi, S; Frasoldati, A; Zuffardi, O (2020). Alazami syndrome: the first case of papillary thyroid carcinoma. Journal Of Human Genetics, 65(2), 133-141. DOI: 10.1038/s10038-019-0682-5https://doi.org/10.1038/s10038-019-0682-5
COL4A1-related autosomal recessive encephalopathy in 2 Turkish children2020-02-01Yaramis, A; Lochmüller, H; Töpf, A; Sonmezler, E; Yilmaz, E; Hiz, S; Yis, U; Gungor, S; Polat, AI; Edem, P; Beltran, S; Laurie, S; Yaramis, A; Horvath (2020). COL4A1-related autosomal recessive encephalopathy in 2 Turkish children. Neurol Genet, 6(1), e392-. DOI: 10.1212/NXG.0000000000000392https://doi.org/10.1212/NXG.0000000000000392
Genome-wide profiling of non-smoking-related lung cancer cells reveals common RB1 rearrangements associated with histopathologic transformation in EGFR-mutant tumors2020-02-01Pros, E; Saigi, M; Alameda, D; Gomez-Mariano, G; Martinez-Delgado, B; Alburquerque-Bejar, JJ; Carretero, J; Tonda, R; Esteve-Codina, A; Catala, I; Pal (2020). Genome-wide profiling of non-smoking-related lung cancer cells reveals common RB1 rearrangements associated with histopathologic transformation in EGFR-mutant tumors. Annals Of Oncology, 31(2), 274-282. DOI: 10.1016/j.annonc.2019.09.001https://doi.org/10.1016/j.annonc.2019.09.001
Blood eosinophil count and airway epithelial transcriptome relationships in COPD versus asthma2020-02-01George, L; Taylor, AR; Esteve-Codina, A; Artigas, MS; Thun, GA; Bates, S; Pavlidis, S; Wagers, S; Boland, A; Prasse, A; Boschetto, P; Parr, DG; Nowins (2020). Blood eosinophil count and airway epithelial transcriptome relationships in COPD versus asthma. Allergy, 75(2), 370-380. DOI: 10.1111/all.14016https://doi.org/10.1111/all.14016
Flow Sorting Enrichment and Nanopore Sequencing of Chromosome 1 From a Chinese Individual2020-01-09Kuderna, LFK; Solís-Moruno, M; Batlle-Masó, L; Julià, E; Lizano, E; Anglada, R; Ramírez, E; Bote, A; Tormo, M; Marquès-Bonet, T; Fornas, O; Casals, F (2020). Flow Sorting Enrichment and Nanopore Sequencing of Chromosome 1 From a Chinese Individual. Frontiers In Genetics, 10(), 1315-. DOI: 10.3389/fgene.2019.01315https://doi.org/10.3389/fgene.2019.01315
Evolutionary History, Genomic Adaptation to Toxic Diet, and Extinction of the Carolina Parakeet2020-01-06Gelabert, P; Sandoval-Velasco, M; Serres, A; de Manuel, M; Renom, P; Margaryan, A; Stiller, J; De-Dios, T; Fang, Q; Feng, SH; Mañosa, S; Pacheco, G; F (2020). Evolutionary History, Genomic Adaptation to Toxic Diet, and Extinction of the Carolina Parakeet. Current Biology, 30(1), 108-+. DOI: 10.1016/j.cub.2019.10.066https://doi.org/10.1016/j.cub.2019.10.066
Transposons played a major role in the diversification between the closely related almond and peach genomes: results from the almond genome sequence2020-01-01Alioto, T; Alexiou, KG; Bardil, A; Barteri, F; Castanera, R; Cruz, F; Dhingra, A; Duval, H; Martí, AFI; Frias, L; Galán, B; García, JL; Howad, W; Góme (2020). Transposons played a major role in the diversification between the closely related almond and peach genomes: results from the almond genome sequence. Plant Journal, 101(2), 455-472. DOI: 10.1111/tpj.14538https://doi.org/10.1111/tpj.14538
The ethylene receptors CpETR1A and CpETR2B cooperate in the control of sex determination in Cucurbita pepo2020-01-01Garcia, A; Aguado, E; Martinez, C; Loska, D; Beltran, S; Valenzuela, JL; Garrido, D; Jamilena, M (2020). The ethylene receptors CpETR1A and CpETR2B cooperate in the control of sex determination in Cucurbita pepo. Journal Of Experimental Botany, 71(1), 154-167. DOI: 10.1093/jxb/erz417https://doi.org/10.1093/jxb/erz417
Confirmation of TACO1 as a Leigh Syndrome Disease Gene in Two Additional Families2020-01-01Oktay, Y; Güngör, S; Zeltner, L; Wiethoff, S; Schöls, L; Sonmezler, E; Yilmaz, E; Munro, B; Bender, B; Kernstock, C; Kaemereit, S; Liepelt, I; Töpf, A (2020). Confirmation of TACO1 as a Leigh Syndrome Disease Gene in Two Additional Families. J Neuromuscul Dis, 7(3), 301-308. DOI: 10.3233/JND-200510https://doi.org/10.3233/JND-200510
Improved Criteria for the Classification of Titin Variants in Inherited Skeletal Myopathies2020-01-01Savarese, M; Johari, M; Johnson, K; Arumilli, M; Torella, A; Töpf, A; Rubegni, A; Kuhn, M; Giugliano, T; Gläser, D; Fattori, F; Thompson, R; Penttilä, (2020). Improved Criteria for the Classification of Titin Variants in Inherited Skeletal Myopathies. , 7(2), 153-166. DOI: 10.3233/JND-190423https://doi.org/10.3233/JND-190423
Resistome analyses of sputum from COPD and healthy subjects reveals bacterial load-related prevalence of target genes2020-01-01Ramsheh, MY; Haldar, K; Bafadhel, M; George, L; Free, RC; John, C; Reeve, NF; Ziegler-Heitbrock, L; Gut, I; Singh, D; Mistry, V; Tobin, MD; Oggioni, M (2020). Resistome analyses of sputum from COPD and healthy subjects reveals bacterial load-related prevalence of target genes. Thorax, 75(1), 8-16. DOI: 10.1136/thoraxjnl-2019-213485https://doi.org/10.1136/thoraxjnl-2019-213485
Blood-derived biomarkers correlate with clinical progression in Duchenne muscular dystrophy2020-01-01Strandberg, K; Ayoglu, B; Roos, A; Reza, M; Niks, E; Signorelli, M; Fasterius, E; Pontén, F; Lochmüller, H; Domingos, J; Ala, P; Muntoni, F; Aartsma-R (2020). Blood-derived biomarkers correlate with clinical progression in Duchenne muscular dystrophy. J Neuromuscul Dis, 7(3), 231-246. DOI: 10.3233/JND-190454https://doi.org/10.3233/JND-190454
The ELIXIR Human Copy Number Variations Community: Building bioinformatics infrastructure for research2020-01-01Salgado D; Béroud C; Armean IM; Baudis M; Beltran S; Capella-Gutierrez S; Carvalho-Silva D; Dominguez Del Angel V; Dopazo J; Furlong LI; Gao B; Garcia (2020). The ELIXIR Human Copy Number Variations Community: Building bioinformatics infrastructure for research. F1000research, 9(), -. DOI: 10.12688/f1000research.24887.1https://doi.org/10.12688/f1000research.24887.1
From research to rapid response: Mass COVID-19 testing by volunteers at the Centre for Genomic Regulation2020-01-01Ghose R; Aranguren-Ibáñez A; Arecco N; Balboa D; Bataller M; Beltran S; Benisty H; Bénard A; Bernardo E; Carbonell Sala S; Casals E; Ciampi L; Condemi (2020). From research to rapid response: Mass COVID-19 testing by volunteers at the Centre for Genomic Regulation. F1000research, 9(), 1336-. DOI: 10.12688/f1000research.27497.1https://doi.org/10.12688/f1000research.27497.1