Functional filter for whole genome sequencing data identifies HHT and stress-associated non-coding SMAD4 polyadenylation site variants >5kb from coding DN

Sihao Xiao* (Corresponding Author), Zhentian Kai, Daniel Murphy, Dongyang Li, Dilip Patel, Adrianna Bielowka, Maria E. Bernabeu-Herrero, Awatif Abdulmogith, Andrew D. Mumford, Sarah Westbury, Micheala A. Aldred, Neil Vargesson, Mark J. Caulfield, Genomics England Research Consortium, Claire L Shovlin* (Corresponding Author)

*Corresponding author for this work

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4 Citations (Scopus)

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Medicine & Life Sciences