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Individual haplotyping prediction agreements

Published: 20 September 2014 Publication History

Abstract

Haplotype problems find important applications in various fields of human genetics. Modern sequencing technologies have significantly improved accuracy of reconstruction using individual's DNA short fragments. The objective of individual haplotype reconstruction algorithms is to design algorithms that rebuild the most likely copies of each chromosome from a set of given short fragments. The performance of the haplotype algorithms are often measured by comparing the reconstructed haplotypes with the original short fragments, using Minimum Error Correction measurement. Yet, there is no evidence in the literature about the level of agreement in all the solutions to the individual haplotyping problem. In other words, it is unknown if different haplotype algorithms coincide on the reconstructed/predicted haplotypes. In this paper, we investigate the problem of haplotyping prediction agreement by comparing the haplotypes produced by a number of well-known haplotype reconstruction algorithms.

References

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G. Lancia, V. Bafna, S. Istrail, R. Lippert, and R. Schwartz, "Snps problems, complexity, and algorithms," in Algorithms ESA 2001. Springer, 2001, pp. 182--193.
[2]
S. Levy, G. Sutton, P. C. Ng, L. Feuk, A. L. Halpern, B. P. Walenz, N. Axelrod, J. Huang, E. F. Kirkness, G. Denisov et al., "The diploid genome sequence of an individual human," PLoS biology, vol. 5, no. 10, p. e254, 2007.
[3]
V. Bansal and V. Bafna, "Hapcut: an efficient and accurate algorithm for the haplotype assembly problem," Bioinformatics, vol. 24, no. 16, pp. i153--i159, 2008.
[4]
S. Mazrouee and W. Wang, "Fasthap: fast and accurate single individual haplotype reconstruction using fuzzy conflict graphs," Bioinformatics, 2014 - to appear.
[5]
VenterInst, "Diploid human genome project website, j. craig venter institute," http:www.jcvi.orgcmsresearchprojectshurefoverview, 2014, online, accessed 6-April-2014.

Cited By

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  • (2021)ARHap: Association Rule Haplotype PhasingIEEE/ACM Transactions on Computational Biology and Bioinformatics10.1109/TCBB.2021.3119955(1-1)Online publication date: 2021
  • (2015)PACHProceedings of the 2015 IEEE International Conference on Bioinformatics and Biomedicine (BIBM)10.1109/BIBM.2015.7359963(1786-1788)Online publication date: 9-Nov-2015

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  1. Individual haplotyping prediction agreements

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        Published In

        cover image ACM Conferences
        BCB '14: Proceedings of the 5th ACM Conference on Bioinformatics, Computational Biology, and Health Informatics
        September 2014
        851 pages
        ISBN:9781450328944
        DOI:10.1145/2649387
        • General Chairs:
        • Pierre Baldi,
        • Wei Wang
        Permission to make digital or hard copies of part or all of this work for personal or classroom use is granted without fee provided that copies are not made or distributed for profit or commercial advantage and that copies bear this notice and the full citation on the first page. Copyrights for third-party components of this work must be honored. For all other uses, contact the Owner/Author.

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        Association for Computing Machinery

        New York, NY, United States

        Publication History

        Published: 20 September 2014

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        Author Tags

        1. haplotype
        2. next generation sequencing
        3. single individual

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        BCB '14
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        BCB '14: ACM-BCB '14
        September 20 - 23, 2014
        California, Newport Beach

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        Overall Acceptance Rate 254 of 885 submissions, 29%

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        • (2021)ARHap: Association Rule Haplotype PhasingIEEE/ACM Transactions on Computational Biology and Bioinformatics10.1109/TCBB.2021.3119955(1-1)Online publication date: 2021
        • (2015)PACHProceedings of the 2015 IEEE International Conference on Bioinformatics and Biomedicine (BIBM)10.1109/BIBM.2015.7359963(1786-1788)Online publication date: 9-Nov-2015

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