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arXiv · 1701.04387

A CUSUM approach to the detection of copy-number neutral loss of heterozygosity

Murilo S. Pinheiro·Aluísio S. Pinheiro·Denilon S. Carvalho
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Abstract

Several genetic alterations are involved in the genesis and development of cancers. The determination of whether and how each genetic alterations contributes to cancer development is fundamental for a complete understanding of the human cancer etiology. Loss of heterozygosity (LOH) is one of such genetic phenomenon linked to a variate of diseases and characterized by the change from heterozygosity (the presence of both alleles of a gene) to to homozygosity (presence of only one type of allele) in a particular DNA locus. Thus identification of DNA regions where LOH has taken place is a important issue in the health sciences. In this article we formulate the LOH detection as the identification of change-points in the parameters of a mixture model and present a detection algorithm based on the cumulative sums (CUSUM) method. We found that even under mild contamination our proposal is a fast and reliable method.

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Murilo S. Pinheiro, Aluísio S. Pinheiro, Denilon S. Carvalho. 2017-01-16. A CUSUM approach to the detection of copy-number neutral loss of heterozygosity. https://arxiv.org/abs/1701.04387

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