POSTER ABSTRACTS
#16 Whole-exome sequencing as a clinical tool in dogs Fréderique Boeykens1 , Sofie Bhatti1, Luc Peelman1, Bart J. G. Broeckx1
frederique.boeykens@ugent.be 1Ghent University, Ghent, Belgium
Whole-exome sequencing (WES) is used to selectively sequence all exons of protein-coding genes. While WES is already used as a clinical tool in human medicine, its use in veterinary medicine is currently restricted to research purposes. To assess the potential of WES in a clinical setting in the dog, 49 canine samples were sequenced and evaluated for the presence of 349 phenotype-associat- ed variants. The sequencing performance was compared for three types of variants, based on their size and location: SNPs inside exons, larger variants (≤ 20 bp) inside exons and intronic variants. Fifty-one percent and 46% of the SNPs and larger exonic variants were consistently sequenced at a sequencing depth of ≥10x in all 49 samples, respectively. However, if per sample performance was analyzed, on average 244 out of 291 variants (84%) of the exonic variants and 48 out of 54 (88%) larger variants were sequenced at least 10x. In the best performing sample, 94% of the exonic SNPs were covered at least 10x, whereas in the worst performing sample, still 70% of the exonic SNPs had a sequencing depth of more than 10x. To our knowledge, this is the first report that describes the performance of a research-intended WES design if it would be used for diagnostics. The next steps are the development of improved designs and settings to ameliorate these results.
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