2014 ACMG: Impacts of updating the reference assembly on genome interpretation

Robust gene representation in the reference assembly is a critical aspect for analyzing whole genome and whole exome data. Using gene annotation data from the NCBI eukaryotic annotation pipeline, we looked at Gene IDs that are not represented at all in GRCh37 or were partial gene annotations in GRCh37, but complete in GRCh38.

 

Download
2017-10-02T22:42:45+00:00