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Reactive gene curation to support interpretation and reporting of a clinical genome test for rare disease: Experience from over 1,000 cases

Amanda R. Clause, Julie P. Taylor, Revathi Rajkumar and 23 more

Cell Genomics · 2023

doi:10.1016/j.xgen.2023.100258 (opens in a new tab)

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References40

11.
Reappraisal of Reported Genes for Sudden Arrhythmic Death · 2018
12.
The BabySeq project: implementing genomic sequencing in newborns · 2018
16.
Flexible and scalable diagnostic filtering of genomic variants using G2P with Ensembl VEP · 2019
36.
Best practices for the interpretation and reporting of clinical whole genome sequencing · 2022
37.
The Gene Curation Coalition: A global effort to harmonize gene–disease evidence resources · 2022

35 more references, whose wording the paper’s licence keeps private.

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