9. Data Structure File Version

9.1. Variant Data Structure

v0.4.6 (2020.05.22)
  • add maximum delta score (MAXDS) of SpliceAI

  • add nhomalt(count of homozygous individuals) of gnomAD

  • split pred and score in pathogenicity score from VEP (SIFT and Polyphen)

9.2. Gene Data Structure

v0.4