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Updated: May 12, 2025
Quantification of Circulating Pig-Specific DNA in the Blood of a Xenotransplantation Model
Published on: September 22, 2020
Development of a whole-exome sequencing kit to facilitate porcine biomedical research
Vishwaarth Vijayakumar1, Tanvi Joshi2, Lobna Elkhadragy3
1Carle Illinois College of Medicine, University of Illinois at Urbana-Champaign, Urbana, IL, USA. vvijay8@illinois.edu.
Background:
It is important for porcine models to replicate gene mutations present in human diseases to improve the translatability of animal studies. In this study, the high efficacy of a whole exome sequencing kit was demonstrated for the improved pig reference genome (Sus scrofa 11.1) to profile biomedically relevant swine breeds and enable high-depth sequencing required for intratumor heterogeneity profiling.
Results:
We identify a total of 751,624 single nucleotide variants (SNVs) and 113,597 insertions and deletions (INDELs) across 93 samples from 12 porcine breeds. The identified mutations and affected pathways are correlated to muscle-to-fat ratios between different porcine breeds and further inform their utility as models of obesity and cardiovascular disease. Finally, 7935 SNVs and 358 INDELs are present in an Oncopig hepatocellular carcinoma (HCC) cell line and samples from a single Oncopig HCC tumor, with pathways related to hepatic fibrosis, WNT/B-catenin, ATM signaling, and p53 signaling enriched.
Conclusions:
These results demonstrate the kit's high efficacy and utility for identifying mutations in the context of obesity, cardiovascular disease, and cancer across a range of pig models used in biomedical research.
