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...

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Detalhes bibliográficos
Publicado no:BMC Genomics
Main Authors: Frankish, Adam, Uszczynska, Barbara, Ritchie, Graham RS, Gonzalez, Jose M, Pervouchine, Dmitri, Petryszak, Robert, Mudge, Jonathan M, Fonseca, Nuno, Brazma, Alvis, Guigo, Roderic, Harrow, Jennifer
Formato: Artigo
Idioma:Inglês
Publicado em: BioMed Central 2015
Assuntos:
Research
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4502323/
https://ncbi.nlm.nih.gov/pubmed/26110515
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/1471-2164-16-S8-S2
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