Accurate Genome Sequencing Of Single Cells
Accurate Genome Sequencing Of Single Cells
An enabling technology that allows sequencing the genome of single mammalian cells at the consensus error rate of ~10-10 in order to directly measure somatic mutations on single mammalian (human, mouse and others species of similar genome size) cells. Thi
San Diego, CA, United States
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Background

Rapid advances in DNA sequencing technology have made it possible for routine de novo sequencing of many organisms, and re-sequencing of human individuals or human cancers. One major technical challenge remained to be addressed is to sequence the mammalian-size genome in a single cell at the accuracy sufficient for detecting rare somatic point mutations. 

This is extremely difficult because: (i) mammalian genome is large (~109 bps) where as the somatic mutation rate is very low (~10-9 bp per cell division), necessitating a method with extremely low false positive rate (~10-10); (ii) in vitro amplification of DNA from single cells has an error rate of 10-6 or 1,000-time higher than the mutation rate, which is the Achilles’ heel for single-cell sequencing: false positives generated by polymerase errors alone greatly outnumber the true mutations. 

The germline mutation rate in human was directly measured very recently by Roach and colleagues yet direct measuring of somatic mutation rate genome-wide remains to be demonstrated.


Technology Description

A UCSD researcher has developed an enabling technology that allows sequencing the genome of single mammalian cells at the consensus error rate of ~10-10 in order to directly measure somatic mutations on single mammalian (human, mouse and others species of similar genome size) cells. This method has an accuracy of >10,000-fold higher than existing methods.


Applications

Single cell genome sequencing or genotyping, early detection of rare mutations in cancers, and other genetic diagnostic applications that involve very limited input materials and require highly accurate sequencing, such as pre-implantation genetic diagnosis, forensic testing, and others.

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