Single-step capture and sequencing of natural DNA for detection of BRCA1 mutations.

ABSTRACT: Genetic testing for disease risk is an increasingly important component of medical care. However, testing can be expensive, which can lead to patients and physicians having limited access to the genetic information needed for medical decisions. To simplify DNA sample preparation and lower costs, we have developed a system in which any gene can be captured and sequenced directly from human genomic DNA without amplification, using no proteins or enzymes prior to sequencing. Extracted whole-genome DNA is acoustically sheared and loaded in a flow cell channel for single-molecule sequencing. Gene isolation, amplification, or ligation is not necessary. Accurate and low-cost detection of DNA sequence variants is demonstrated for the BRCA1 gene. Disease-causing mutations as well as common variants

SUBMITTER: Thompson JF 

PROVIDER: S-EPMC3266041 | biostudies-literature | 2012 Feb

REPOSITORIES: biostudies-literature