2024
DOI: 10.1002/ajmg.a.63880
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Promoter Deletion Leading to Allele Specific Expression in a Genetically Unsolved Case of Primary Ciliary Dyskinesia

M. Makenzie Beaman,
Weining Yin,
Amanda J. Smith
et al.

Abstract: Variation in the non‐coding genome represents an understudied mechanism of disease and it remains challenging to predict if single nucleotide variants, small insertions and deletions, or structural variants in non‐coding genomic regions will be detrimental. Our approach using complementary RNA‐seq and targeted long‐read DNA sequencing can prioritize identification of non‐coding variants that lead to disease via alteration of gene splicing or expression. We have identified a patient with primary ciliary dyskine… Show more

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