• Zhang P, Samuels DC, Zhao S, Wang J, Shyr Y, Guo Y. Practicability of mitochondrial heteroplasmy detection through an Illumina genotyping array. Mitochondrion. 2016 Nov;31. 75-78. PMID: 27628068 [PubMed].


High-throughput genomic data often contain unexpected information that can be mined for alternative applications. Despite the rise of high-throughput sequencing, Illumina genotyping arrays remain a driving force in large scale genetic and epidemiology studies. By processing and analyzing genotyping data of over 100,000 samples genotyped on Illumina genotyping arrays, we discovered evidence that indicates that mitochondrial heteroplasmy can be estimated from the fluorescence intensity data of the array. To verify our hypothesis, we conducted a sequencing validation study.