Genetic & Genomic MedicineGenome MedicinePeer-reviewed
Recommendations for clinical interpretation of variants found in non-coding regions of the genome
Jamie M. Ellingford, Joo Wook Ahn, Richard D. Bagnall…·Nicola Whiffin
This paper provides recommendations for interpreting non-coding variants in clinical settings, adapting existing guidelines to account for their role in disease.
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