17/05/2022

BR-Health

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NLM Collaboration Improves Standards for Reporting Clinical Genomics Variants

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