A joint NCBI and EMBL-EBI transcript set for clinical genomics and research

Abstract Comprehensive genome annotation is essential to understand the impact of clinically relevant variants. However, the absence of a standard for clinical reporting and browser display complicates the process of consistent interpretation and reporting. To address these challenges, Ensembl/GENCODE 1 and RefSeq 2 launched a joint initiative, the Matched Annotation from NCBI and EMBL-EBI (MANE) collaboration, to converge on human gene and transcript annotation and to jointly define a high-value set of transcripts and corresponding proteins. Here, we describe the MANE transcript sets for use as universal standards for variant reporting and browser display. The MANE Select set identifies a representative…

• WT
  Wellcome Trust

  Awards: WT200990/Z/16/Z, /Z/15/Z, WT108749/Z/15/Z, WT200990/A/16/Z
• EB
  European Bioinformatics Institute
• NI
  National Institutes of Health

  Awards: WT108749/Z/15/Z, 2U41HG007234
• MR
  Medical Research Council

  Award: MC_PC_19024
• NH
  National Human Genome Research Institute

  Award: 2U41HG007234
• UN
  U.S. National Library of Medicine