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NLM Collaboration Improves Standards for Reporting Clinical Genomics Variants

April 14, 2022

The National Library of Medicine’s (NLM) National Center for Biotechnology Information (NCBI) and the European Molecular Biology Laboratory’s European Bioinformatics Institute (EMBL-EBI) have released a set of standard transcripts for 99% of human protein coding genes and 99.8% of genes of clinical relevance. This set, part of the Matched Annotation from NCBI and EMBL-EBI (MANE) collection, harmonizes transcript and protein sets produced by this joint genome annotation effort.

“The MANE project is the most ambitious and impactful update to human gene annotation that we’ve made in a decade,” said Terence Murphy, Team Leader at NLM’s NCBI RefSeq (Reference Sequence Database). “Our collaboration with EMBI-EBI has been hugely rewarding, and together we’ve created a universal standard for the human genome that will help accelerate academic and clinical research and reduce errors by being able to refer to a single resource."

Having a universal transcript with synonymous NCBI and EMBL-EBI identifiers will promote consistency in clinical variant reporting, facilitate efficient exchange of clinical variant data, and reduce clinical harm that may be caused by errors in variant interpretation. Ultimately, this will help drive innovations and discovery in human health and diagnostics.

The results of the MANE collaboration were reported in an article published in the journal Nature.   More information about the MANE dataset and collaboration can be found in NCBI Insights Blog.