Functional filter for whole genome sequence data identifies stress impact, non-coding, alternate polyadenylation site variants >5kb from coding DNA
Sihao Xiao, Zhentian Kai, Dan Murphy, Dongyang Li, Dilip Patel, Adrianna M. Bielowka, María E Bernabeu-Herrero, Awatif Abdulmogith, Andrew David Mumford, Sarah K. Westbury, Micheala A. Aldred, Neil Vargesson, Mark J. Caulfield, Claire L. Shovlin
GROFFFY filters whole genome sequence data to identify non-coding and polyadenylation site variants, improving detection of disease-causing variants in unsolved cases.
medRxiv · May 10, 2023 · PreprintGenetic & Genomic Medicine