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Characterizing Mutational Load and Clonal Composition of Human Blood
Published on: July 11, 2019
Probabilistic assessment of clone overlaps in DNA fingerprint mapping via a priori models
1Genome Sequencing Center, Washington University, St. Louis, MO 63108, USA. mwendl@wustl.edu
Abstract:
We construct a combinatorially exact probability distribution for the problem of a priori clone overlap assessment in DNA fingerprint mapping. It is implemented as a general enumeration methodology using Bell's exponential polynomials. Established computational metrics do not consider the conditional nature of the problem. They dramatically overpredict actual match probabilities as a consequence. This elevates the rate of false-negative overlap declarations, which is consistent with previous validation studies. Increased measurement resolution does not significantly improve accuracy. We describe general trends in error behavior for intermediate-size DNA clones and discuss corresponding limits on the ability to assess certain overlaps.
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