Comparison of GENCODE and RefSeq gene annotation and the impact of reference geneset on variant effect prediction

June 23, 2015 Leave a comment 5,325 Views

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 ...

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Comparison of GENCODE and RefSeq gene annotation and the impact of reference geneset on variant effect prediction

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