Comparison of GENCODE and RefSeq gene annotation and the impact of reference geneset on variant effect prediction.
|Title||Comparison of GENCODE and RefSeq gene annotation and the impact of reference geneset on variant effect prediction.|
|Publication Type||Journal Article|
|Year of Publication||2015|
|Authors||Frankish A, Uszczynska B, Ritchie GR, Gonzalez JM, Pervouchine D, Petryszak R, Mudge JM, Fonseca N, Brazma A, Guigo R, Harrow J|
|Volume||16 Suppl 8|
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 differences in prediction of loss-of-function (LoF) variation when RefSeq and Ensembl transcripts are used for annotation, highlighting the importance of the reference transcripts on which variant functional annotation is based.