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Publicações

Publicações por LIAAD

2020

Publisher Correction: Butler enables rapid cloud-based analysis of thousands of human genomes (Nature Biotechnology, (2020), 10.1038/s41587-019-0360-3)

Autores
Yakneen, S; Waszak, SM; Yakneen, S; Aminou, B; Bartolome, J; Boroevich, KA; Boyce, R; Brooks, AN; Buchanan, A; Buchhalter, I; Butler, AP; Byrne, NJ; Cafferkey, A; Campbell, PJ; Chen, Z; Cho, S; Choi, W; Clapham, P; Davis Dusenbery, BN; De La Vega, FM; Demeulemeester, J; Dow, MT; Dursi, LJ; Eils, J; Eils, R; Ellrott, K; Farcas, C; Favero, F; Fayzullaev, N; Ferretti, V; Flicek, P; Fonseca, NA; Gelpi, JL; Getz, G; Gibson, B; Grossman, RL; Harismendy, O; Heath, AP; Heinold, MC; Hess, JM; Hofmann, O; Hong, JH; Hudson, TJ; Hutter, B; Hutter, CM; Hübschmann, D; Imoto, S; Ivkovic, S; Jeon, SH; Jiao, W; Jung, J; Kabbe, R; Kahles, A; Kerssemakers, JNA; Kim, HL; Kim, H; Kim, J; Kim, Y; Kleinheinz, K; Koscher, M; Koures, A; Kovacevic, M; Lawerenz, C; Leshchiner, I; Liu, J; Livitz, D; Mihaiescu, GL; Mijalkovic, S; Mijalkovic Lazic, A; Miyano, S; Miyoshi, N; Nahal Bose, HK; Nakagawa, H; Nastic, M; Newhouse, SJ; Nicholson, J; O’Connor, BD; Ocana, D; Ohi, K; Ohno Machado, L; Omberg, L; Ouellette, BFF; Paramasivam, N; Perry, MD; Pihl, TD; Prinz, M; Puiggròs, M; Radovic, P; Raine, KM; Rheinbay, E; Rosenberg, M; Royo, R; Rätsch, G; Saksena, G; Schlesner, M; Shorser, SI; Short, C; Sofia, HJ; Spring, J; Stein, LD; Struck, AJ; Tiao, G; Tijanic, N; Torrents, D; Van Loo, P; Vazquez, M; Vicente, D; Wala, JA; Wang, Z; Waszak, SM; Weischenfeldt, J; Werner, J; Williams, A; Woo, Y; Wright, AJ; Xiang, Q; Yang, L; Yuen, D; Yung, CK; Zhang, J; Korbel, JO; Gertz, M; Korbel, JO;

Publicação
Nature Biotechnology

Abstract
This paper was originally published under standard Springer Nature copyright (© The Author(s), under exclusive licence to Springer Nature America, Inc.). It is now available as an open-access paper under a Creative Commons Attribution 4.0 International license. © 2020, The Author(s).

2020

Pathway and network analysis of more than 2500 whole cancer genomes

Autores
Reyna, MA; Haan, D; Paczkowska, M; Verbeke, LPC; Vazquez, M; Kahraman, A; Pulido Tamayo, S; Barenboim, J; Wadi, L; Dhingra, P; Shrestha, R; Getz, G; Lawrence, MS; Pedersen, JS; Rubin, MA; Wheeler, DA; Brunak, S; Izarzugaza, JMG; Khurana, E; Marchal, K; von Mering, C; Sahinalp, SC; Valencia, A; Abascal, F; Amin, SB; Bader, GD; Bandopadhayay, P; Beroukhim, R; Bertl, J; Boroevich, KA; Busanovich, J; Campbell, PJ; Carlevaro Fita, J; Chakravarty, D; Chan, CWY; Chen, K; Choi, JK; Deu Pons, J; Diamanti, K; Feuerbach, L; Fink, JL; Fonseca, NA; Frigola, J; Gambacorti Passerini, C; Garsed, DW; Gerstein, M; Guo, Q; Gut, IG; Hamilton, MP; Haradhvala, NJ; Harmanci, AO; Helmy, M; Herrmann, C; Hess, JM; Hobolth, A; Hodzic, E; Hong, C; Hornshøj, H; Isaev, K; Johnson, R; Johnson, TA; Juul, M; Juul, RI; Kahles, A; Kellis, M; Kim, J; Kim, JK; Kim, Y; Komorowski, J; Korbel, JO; Kumar, S; Lanzós, A; Larsson, E; Lee, D; Lehmann, KV; Li, S; Li, X; Lin, Z; Liu, EM; Lochovsky, L; Lou, S; Madsen, T; Martincorena, I; Martinez Fundichely, A; Maruvka, YE; McGillivray, PD; Meyerson, W; Muiños, F; Mularoni, L; Nakagawa, H; Nielsen, MM; Park, K; Park, K; Pons, T; Reyes Salazar, I; Rheinbay, E; Rubio Perez, C; Saksena, G; Salichos, L; Sander, C; Schumacher, SE; Shackleton, M; Shapira, O; Shen, C; Shuai, S; Sidiropoulos, N; Sieverling, L; Sinnott Armstrong, N; Stein, LD; Tamborero, D; Tiao, G; Tsunoda, T; Umer, HM; Uusküla Reimand, L; Wadelius, C; Wang, J; Warrell, J; Waszak, SM; Weischenfeldt, J; Wu, G; Yu, J; Zhang, J; Zhang, X; Zhang, Y; Zhao, Z; Zou, L; Reimand, J; Stuart, JM; Raphael, BJ;

Publicação
Nature Communications

Abstract
The catalog of cancer driver mutations in protein-coding genes has greatly expanded in the past decade. However, non-coding cancer driver mutations are less well-characterized and only a handful of recurrent non-coding mutations, most notably TERT promoter mutations, have been reported. Here, as part of the ICGC/TCGA Pan-Cancer Analysis of Whole Genomes (PCAWG) Consortium, which aggregated whole genome sequencing data from 2658 cancer across 38 tumor types, we perform multi-faceted pathway and network analyses of non-coding mutations across 2583 whole cancer genomes from 27 tumor types compiled by the ICGC/TCGA PCAWG project that was motivated by the success of pathway and network analyses in prioritizing rare mutations in protein-coding genes. While few non-coding genomic elements are recurrently mutated in this cohort, we identify 93 genes harboring non-coding mutations that cluster into several modules of interacting proteins. Among these are promoter mutations associated with reduced mRNA expression in TP53, TLE4, and TCF4. We find that biological processes had variable proportions of coding and non-coding mutations, with chromatin remodeling and proliferation pathways altered primarily by coding mutations, while developmental pathways, including Wnt and Notch, altered by both coding and non-coding mutations. RNA splicing is primarily altered by non-coding mutations in this cohort, and samples containing non-coding mutations in well-known RNA splicing factors exhibit similar gene expression signatures as samples with coding mutations in these genes. These analyses contribute a new repertoire of possible cancer genes and mechanisms that are altered by non-coding mutations and offer insights into additional cancer vulnerabilities that can be investigated for potential therapeutic treatments. © 2020, The Author(s).

2020

The InBIO Barcoding Initiative Database: contribution to the knowledge on DNA barcodes of Iberian Plecoptera

Autores
Ferreira, S; de Figueroa, JMT; Martins, FMS; Verissimo, J; Quaglietta, L; Grosso Silva, JM; Lopes, PB; Sousa, P; Pauperio, J; Fonseca, NA; Beja, P;

Publicação
BIODIVERSITY DATA JOURNAL

Abstract
Background The use of DNA barcoding allows unprecedented advances in biodiversity assessments and monitoring schemes of freshwater ecosystems; nevertheless, it requires the construction of comprehensive reference collections of DNA sequences that represent the existing biodiversity. Plecoptera are considered particularly good ecological indicators and one of the most endangered groups of insects, but very limited information on their DNA barcodes is available in public databases. Currently, less than 50% of the Iberian species are represented in BOLD. New information The InBIO Barcoding Initiative Database: contribution to the knowledge on DNA barcodes of Iberian Plecoptera dataset contains records of 71 specimens of Plecoptera. All specimens have been morphologically identified to species level and belong to 29 species in total. This dataset contributes to the knowledge on the DNA barcodes and distribution of Plecoptera from the Iberian Peninsula and it is one of the IBI database public releases that makes available genetic and distribution data for a series of taxa. The species represented in this dataset correspond to an addition to public databases of 17 species and 21 BINs. Fifty-eight specimens were collected in Portugal and 18 in Spain during the period of 2004 to 2018. All specimens are deposited in the IBI collection at CIBIO, Research Center in Biodiversity and Genetic Resources and their DNA barcodes are publicly available in the Barcode of Life Data System (BOLD) online database. The distribution dataset can be freely accessed through the Global Biodiversity Information Facility (GBIF).

2020

The InBIO Barcoding Initiative Database: DNA barcodes of Portuguese Diptera 01

Autores
Ferreira, SA; Andrade, R; Goncalves, AR; Sousa, P; Pauperio, J; Fonseca, NA; Beja, P;

Publicação
BIODIVERSITY DATA JOURNAL

Abstract
Background The InBIO Barcoding Initiative (IBI) Diptera 01 dataset contains records of 203 specimens of Diptera. All specimens have been morphologically identified to species level, and belong to 154 species in total. The species represented in this dataset correspond to about 10% of continental Portugal dipteran species diversity. All specimens were collected north of the Tagus river in Portugal. Sampling took place from 2014 to 2018, and specimens are deposited in the IBI collection at CIBIO, Research Center in Biodiversity and Genetic Resources. New information This dataset contributes to the knowledge on the DNA barcodes and distribution of 154 species of Diptera from Portugal and is the first of the planned IBI database public releases, which will make available genetic and distribution data for a series of taxa. All specimens have their DNA barcodes made publicly available in the Barcode of Life Data System (BOLD) online database and the distribution dataset can be freely accessed through the Global Biodiversity Information Facility (GBIF).

2020

Tumors induce de novo steroid biosynthesis in T cells to evade immunity

Autores
Mahata, B; Pramanik, J; van der Weyden, L; Polanski, K; Kar, G; Riedel, A; Chen, X; Fonseca, NA; Kundu, K; Campos, LS; Ryder, E; Duddy, G; Walczak, I; Okkenhaug, K; Adams, DJ; Shields, JD; Teichmann, SA;

Publicação
Nature Communications

Abstract

2020

A user guide for the online exploration and visualization of PCAWG data

Autores
Goldman, MJ; Zhang, J; Fonseca, NA; Cortés-Ciriano, I; Xiang, Q; Craft, B; Piñeiro-Yáñez, E; O’Connor, BD; Bazant, W; Barrera, E; Muñoz-Pomer, A; Petryszak, R; Füllgrabe, A; Al-Shahrour, F; Keays, M; Haussler, D; Weinstein, JN; Huber, W; Valencia, A; Park, PJ; Papatheodorou, I; Zhu, J; Ferretti, V; Vazquez, M;

Publicação
Nature Communications

Abstract

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