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Barbara Uszczynska on Muck Rack

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Articles

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

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By Jose Gonzalez Verified, Adam Frankish, Barbara Uszczynska, Graham RS Ritchie, Dmitri Pervouchine
| Biomed Central (BMC)
To quantify the differences between the GENCODE and RefSeq genesets, we investigated the general properties of transcripts from protein-coding genes that map to the reference human genome (GRCh38). Alternative splicing is the major source of transcriptional diversity within protein-coding genes, and this can occur in three ways: (1) through the 'skipping' of exons, (2) through the incorporation of additional exons, and (3) via the use of alternative splice sites within the same exon.
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