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Lost in translation: the pitfalls of Ensembl gene annotations between human genome assemblies and their impact on diagnostics
CONCLUSION: For discrepant genes, the inaccurate label of 'non-protein-coding' has relevant ramifications on clinical genetics. Accurate collation of these genes allows for manual curation in clinically relevant scenarios.PMID:37449513 | DOI:10.1080/14737159.2023.2237411 (Source: Expert Review of Molecular Diagnostics)
Source: Expert Review of Molecular Diagnostics - July 14, 2023 Category: Laboratory Medicine Authors: Mohammed O E Abdallah Mahmoud Koko Raj Ramesar Source Type: research