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. 2016 Dec 30;33(10):1437–1446. doi: 10.1093/bioinformatics/btw799

Fig. 1.

Fig. 1

(A) ACE reconstructs explicit haplotype sequences from a phased VCF file, projects reference annotations onto them, detects possible gene structure changes, and interprets changes in terms of possible loss of function. (B) When a disrupted splice site is encountered, ACE enumerates possible alternate splice forms resulting from cryptic splicing, exon skipping, intron retention or any combination resulting from multiple variants