Lost in translation: the pitfalls of Ensembl gene annotations between human genome assemblies and their impact on diagnostics

Abdallah, MOE; Koko, M; Ramesar, R

Abdallah, MOE (通讯作者)，Univ British Columbia, Ctr Mol Med & Therapeut, Div Human Genet, Vancouver, BC V5Z 4H4, Canada.

EXPERT REVIEW OF MOLECULAR DIAGNOSTICS, 2023; ():

Abstract

BackgroundGene models based on GRCh37 human genome assembly are preferred by many international projects over other updated assemblies (GRCh38 and T2T......

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