Article

Systematic evaluation of MANE Plus Clinical transcripts: implications for genomic diagnostics

2026-06-03

Abstract excerpt

<title>Abstract</title> <p> Differences between RefSeq and Ensembl/GENCODE transcript annotations have complicated data harmonisation, leading to the MANE project that defined a single MANE Select (MS) transcript per gene, supplemented by MANE Plus Clinical (MPC) transcripts for clinically-relevant alternative isoforms. However, the diagnostic impact of relying solely on MS versus also considering MPC transcript...

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Literature Corpus work: dc5112d9-92b1-59be-8faa-641f1405f3a1
DOI: 10.21203/rs.3.rs-9680068/v1

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