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1.
PLoS Comput Biol ; 19(1): e1010749, 2023 01.
Artigo em Inglês | MEDLINE | ID: mdl-36602970

RESUMO

With an increasing amount of biological data available publicly, there is a need for a guide on how to successfully download and use this data. The 10 simple rules for using public biological data are: (1) use public data purposefully in your research; (2) evaluate data for your use case; (3) check data reuse requirements and embargoes; (4) be aware of ethics for data reuse; (5) plan for data storage and compute requirements; (6) know what you are downloading; (7) download programmatically and verify integrity; (8) properly cite data; (9) make reprocessed data and models Findable, Accessible, Interoperable, and Reusable (FAIR) and share; and (10) make pipelines and code FAIR and share. These rules are intended as a guide for researchers wanting to make use of available data and to increase data reuse and reproducibility.


Assuntos
Armazenamento e Recuperação da Informação , Reprodutibilidade dos Testes
2.
Genome Biol ; 21(1): 126, 2020 05 28.
Artigo em Inglês | MEDLINE | ID: mdl-32466770

RESUMO

To discover driver fusions beyond canonical exon-to-exon chimeric transcripts, we develop CICERO, a local assembly-based algorithm that integrates RNA-seq read support with extensive annotation for candidate ranking. CICERO outperforms commonly used methods, achieving a 95% detection rate for 184 independently validated driver fusions including internal tandem duplications and other non-canonical events in 170 pediatric cancer transcriptomes. Re-analysis of TCGA glioblastoma RNA-seq unveils previously unreported kinase fusions (KLHL7-BRAF) and a 13% prevalence of EGFR C-terminal truncation. Accessible via standard or cloud-based implementation, CICERO enhances driver fusion detection for research and precision oncology. The CICERO source code is available at https://github.com/stjude/Cicero.


Assuntos
Fusão Gênica , Anotação de Sequência Molecular/métodos , Neoplasias/genética , Software , Algoritmos , Humanos , Análise de Sequência de RNA
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