Article
Promoter Deletion Leading to Allele Specific Expression in a Genetically Unsolved Case of Primary Ciliary Dyskinesia.
American journal of medical genetics. Part A - 1 Feb 2025
Beaman M Makenzie, Yin Weining, Smith Amanda J, Sears Patrick R, Leigh Margaret W, Ferkol Thomas W, Kearney Brendan, Olivier Kenneth N, Kimple Adam J, Clarke Shannon, Huggins Erin, Nading Erica, Jung Seung-Hye, Iyengar Apoorva K, Zou Xue, Dang Hong, Barrera Alejandro, Majoros William H, Rehder Catherine W, Reddy Timothy E, Ostrowski Lawrence E, Allen Andrew S, Knowles Michael R, Zariwala Maimoona A, Crawford Gregory E
Abstract excerpt
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...
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