- A cost-effective, accurate and adaptable sequencing method for capturing and analyzing human mitochondrial DNA heteroplasmies in a simple workflow
- High sensitivity to mtDNA variations
- Useful for clinical diagnostics for disease-related mtDNA mutations, genetic ancestry testing, and forensics
STAMP (Sequencing by Targeted Amplification of Multiplex Probes) is a cost-effective, accurate and adaptable sequencing method for capturing and analyzing human mitochondrial DNA heteroplasmies and numbers in a simple workflow.
Human mitochondrial genome (mtDNA) heteroplasmies, defined as the existence of both wildtype and mutated mtDNA in one cell, are significant in the development and progression of numerous diseases including cancer, autism, diabetes and neurodegenerative diseases. Large-scale population studies of human mtDNA mutations associated with diseases remain a challenge due to lack of a labor- and cost-effective method to sequence the mitochondrial genome.
Cornell researchers have designed and developed STAMP, a novel human mtDNA sequencing method with low cost, high sensitivity, and straightforward experimental workflow. This technique is based on 46 mtDNA extension-ligation (EL) probe pairs that capture and amplify target mtDNA fragments to build mtDNA sequencing libraries, which can then be processed using a python pipeline developed for STAMP to obtain whole mtDNA genomes and identify mtDNA mutants.
The inventors have demonstrated this method in successfully detecting mtDNA variant dosages in Huntington’s disease lymphoblast, as well as their association with clinical characteristics and disease burden. It allows rapid and high-throughput study of mitochondrial DNA in large-scale populations.
- High sensitivity to mtDNA variation and more accurate in representing mtDNA numbers
- Effectively reduce the cost of sequencing library building to less than $5
- Only a small amount of starting mtDNA is required
- Accomplishes all experimental procedures in one tube, reducing the risk of contamination and eliminating the human error during reagent transfer
- Human mtDNA sequencing toolkit and service for researchers to utilize in the study of mtDNA variants
- Clinical Diagnosis tool for finding disease-related human mtDNA mutation in patients
- Other human mtDNA analyses such as genetic ancestry testing, identification, and forensics
Name: Aris Despo