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Archive of entries posted on May 2016

Non-coding variant interpretation using GeneTalk

Variants in noncoding regions are always difficult to interpret on a genomic level . In a recently published article in Human Mutation entitled “Rare Noncoding Mutations Extend the Mutational Spectrum in the PGAP3 Subtype of HPMRS“ we present an approach for filtering pathogenic nonconding variants and explain how to interpret the implications of the variants [...]