Effect of Ensembl and RefSeq sources on Polyphen and SIFT scores

You can create a custom annotation set with Polyphen and SIFT scores. When you use the scores in an annotation set, ensure that you use the corresponding RefSeq or Ensembl^® gene models.

• Functional scores v7 is for the gene model versions RefSeq 83 and Ensembl^® 90.

• Functional Scores v6 is for the gene model versions RefSeq 77 and Ensembl^® 84.

• Functional Scores v5 is for the gene model versions RefSeq 72 and Ensembl^® 79.

• Functional Scores v4 is for the gene model versions RefSeq 63 and Ensembl^® 74.

• Functional scores v3 is for the gene model versions RefSeq 53 and Ensembl^® 65.

For more information, see Create annotation set workflow presets.