Property	Value
Status
Version
Ad File
Disable Ads Flag
Environment
Moat Init
Moat Ready
Contextual Ready
Contextual URL
Contextual Initial Segments
Contextual Used Segments
AdUnit
SubAdUnit
Custom Targeting
Ad Events
Invalid Ad Sizes

December 2, 2022

December 2022: Standardizing variant annotation

Loading ...

One of the challenges in the attempt to standardize variant research, and understand whether a new variant is benign or pathogenic, arises from the fact that the human genome has largely been annotated by two major groups, and they have two different datasets of transcripts: The NCBI, which is based largely in the US, produced the RefSeq database of transcripts, and the EMBL-EBI in Europe produced the Ensembl/GENCODE set of transcripts. In April 2022, a team of researchers introduced the MANE project, or The Matched Annotation from the NCBI and EMBL-EBI , as an attempt to harmonize gene and transcript annotation. While online genome browsers quickly made the change to MANE, not everyone has yet made the switch, as addressed in a recent commentary in Genetics in Medicine. One of the commentary’s authors, Caroline Wright, PhD, professor of genomic medicine at the University of Exeter, joined GenePod to discuss the importance of MANE and its path forward.

December 2022: Standardizing variant annotation

Related articles