Practicability of Mitochondrial Heteroplasmy Detection through an Illumina Genotyping Array.
AUTHORS
- NIHMSID: 100968751
ABSTRACT
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 indicated that mitochondrial heteroplasmy can be estimated from the florescence intensity data of the array. To verify our hypothesis, we conducted a sequencing validation study.
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 indicated that mitochondrial heteroplasmy can be estimated from the florescence intensity data of the array. To verify our hypothesis, we conducted a sequencing validation study.
Tags: Faculty Publications 2016