P539: Fostering a common language in clinical genomics: MANE Select as a universal standard to report clinical variants
Year: 2023
Type: article
Abstract: Accurate interpretation of clinical variants and efficient genomic diagnostics require that a variant be described consistently in scientific literature and among members of the clinical community. An integral part of variant description is the transcript or protein accession and its version. For genes with multiple protein isoforms, the same variant is often described using different transcript or protein accessions, leading to confusion and potential errors in diagnostics and treatment. MANE, Matched Annotation from NCBI (National Center for Biotechnology Information) and EMBL-EBI (European Molecular Biology Laboratories-European Bioinformatics Institute) collaboration, provides MANE Select, a representative transcript and the corresponding protein for every protein-coding gene to be used as a universal reporting standard.
Source: Genetics in Medicine Open
Authors: Shashikant Pujar, Jane Loveland, Alex Astashyn, Ruth Bennett, Andrew Berry, Eric Cox, Claire Davidson, Olga Ermolaeva, Catherine Farrell, Reham Fatima, Tamara Goldfarb, Jose Gonzalez, Diana Haddad, Matthew Hardy, Toby Hunt, John Jackson, Vinita Joardar, Michael Kay, Vamsi Kodali, Kelly McGarvey, Jonathan Mudge, Michael Murphy, Sanjida Rangwala, Françoise Thibaud-Nissen, Anjana Vatsan, Wallin Craig, Webb David, Adam Frankish, Fiona Cunningham, Terence Murphy
Language: English
Topic: Genomics and Rare Diseases
Subfield: Genetics
Domain: Life Sciences
Open Access status: gold
Estimated APC paid: $3,200
OpenAlex ID: W4324117397