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. Author manuscript; available in PMC: 2015 Aug 24.
Published in final edited form as: Science. 2015 May 7;348(6235):648–660. doi: 10.1126/science.1262110

Fig. 7. Integration of transcriptome data improves annotation of putative protein truncating variants (PTVs).

Fig. 7

(A) The majority of annotated PTV variants are partial PTV, meaning that only a fraction of the RNA-seq transcripts support PTV annotation. (B) For all the predicted PTV variants, we ask what percentage of variants maintain a PTV annotation if we require that a fixed percentage of the dominant isoforms across all sequenced tissues support a PTV prediction; 70% of PTV variants are relevant if the threshold is 10%, whereas only 40% of PTV variants are relevant if the threshold is 100%.