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Comparison of GENCODE and RefSeq gene annotation and the impact of reference geneset on variant effect prediction
BACKGROUND: A vast amount of DNA variation is being identified by increasingly large-scale exome and genome sequencing projects. To be useful, variants require accurate functional annotation and a wide range of tools are available to this end. McCarthy et al recently demonstrated the large differenc...
| Autores principales: | , , , , , , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
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BioMed Central
2015
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4502323/ https://www.ncbi.nlm.nih.gov/pubmed/26110515 http://dx.doi.org/10.1186/1471-2164-16-S8-S2 |