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Conventional approaches to genomics rely on analysing bulk samples containing many billions of identical molecules. Although this is usually taken for granted, it imposes huge restrictions on what can be done. Every piece of DNA must be cloned or amplified to obtain the required amounts of pure material. These steps introduce biases of representation of fidelity, make it harder to look at some aspects of genome variation, and demand much additional work.
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My group works on the analysis of single molecules of DNA. By sampling directly from the genome, we can simplify many aspects of genomics. Genome mapping, haplotyping and the precise quantitation of copy number can be performed rapidly and precisely by “molecule counting” approaches. Other single-molecule areas in which we are involved include the analysis of ancient DNA, cancer genomics and pathogen detection. We are also developing methods to sequence long single molecules of DNA sampled directly from the genome.
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Eichinger, L., Pachebat, J.A., Glöckner, G., Rajandream, M-A., Sucgang, R. et al (2005)
The genome of the social amoeba Dictyostelium discoideum.
Nature 435, 43-57.
Krause, J., Dear, P.H., Pollack, J.L., Slatkin, M., Spriggs, H., Barnes, I., Lister, A.M., Ebersberger, I.,Pääbo, S. & Hofreiter, M. (2006)
Multiplex amplification of the mammoth mitochondrial genome and the evolution of Elephantidae.
Nature 439, 724-727.
Daser, A., Thangavelu, M., Pannell, R., Forster, A., Sparrow, L., Chung, G., Dear, P.H. & Rabbitts, T.H. (2006)
Interrogation of genomes by molecular copy-number counting (MCC).
Nature Meth. 3, 447-453.
Visit my Group Page here.
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