Oligonucleotide resequencing arrays provide cost-effective approaches to identify key biomarkers in human disorders. Mitochondrial diseases are one disease family with the underlying genetic variations not yet fully understood. As a proof-of-principle study, we sequenced 39 candidate genes in healthy individuals and patients with mitochondrial diseases using custom designed resequencing arrays.
The genetic variation in a body of sequence data can be summarized by the nucleotide variation within each sample, measured by the variant frequency, typically =5%) and rare (MAF
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