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Evaluation of whole-genome sequencing of four Chinese crested dogs for variant detection using the ion proton system.

Agnese VilumaShumaila SayyabSofia MikkoGöran AnderssonTomas F Bergström
Published in: Canine genetics and epidemiology (2015)
We have evaluated whole-genome sequencing on the Ion Proton system for genetic variant detection in four Chinese crested dogs. Even though INDEL calling with Ion Proton data is challenging due to specific platform errors, in case of SNP calling it can serve as an alternative to other next-generation sequencing platforms and SNP genotyping arrays, in studies aiming to identify causative mutations for rare monogenic diseases. In addition, we have identified new genetic variants of the Chinese Crested dog that will contribute to further whole-genome sequencing studies aimed to identify mutations associated with monogenic diseases with autosomal recessive inheritance.
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