RESUMEN
MOTIVATION: Gene prioritization aims at identifying the most promising candidate genes among a large pool of candidates-so as to maximize the yield and biological relevance of further downstream validation experiments and functional studies. During the past few years, several gene prioritization tools have been defined, and some of them have been implemented and made available through freely available web tools. In this study, we aim at comparing the predictive performance of eight publicly available prioritization tools on novel data. We have performed an analysis in which 42 recently reported disease-gene associations from literature are used to benchmark these tools before the underlying databases are updated. RESULTS: Cross-validation on retrospective data provides performance estimate likely to be overoptimistic because some of the data sources are contaminated with knowledge from disease-gene association. Our approach mimics a novel discovery more closely and thus provides more realistic performance estimates. There are, however, marked differences, and tools that rely on more advanced data integration schemes appear more powerful. CONTACT: yves.moreau@esat.kuleuven.be SUPPLEMENTARY INFORMATION: Supplementary data are available at Bioinformatics online.
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Bases de Datos Genéticas , Estudios de Asociación Genética , Humanos , InternetRESUMEN
Collaboration can be challenging; nevertheless, the emerging successes of large, multi-partner, multi-national cooperatives and research networks in the biomedical sector have sustained the appetite of academics and industry partners for developing and fostering new research consortia. This model has percolated down to national funding agencies across the globe, leading to funding for projects that aim to realise the true potential of genomic medicine in the 21st century and to reap the rewards of 'big data'. In this Perspectives article, the experiences of the RA-MAP consortium, a group of more than 140 individuals affiliated with 21 academic and industry organizations that are focused on making genomic medicine in rheumatoid arthritis a reality are described. The challenges of multi-partner collaboration in the UK are highlighted and wide-ranging solutions are offered that might benefit large research consortia around the world.
Asunto(s)
Artritis Reumatoide/genética , Investigación Biomédica/organización & administración , Conducta Cooperativa , Genómica/métodos , Industrias/organización & administración , Investigación/organización & administración , Artritis Reumatoide/terapia , Biomarcadores , Genómica/historia , Historia del Siglo XXI , Humanos , Fenotipo , Reino Unido/epidemiologíaRESUMEN
This corrects the article DOI: 10.1038/nrrheum.2017.200.