NLM Collaboration Improves Standards for Reporting Clinical Genomics Variants

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.