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Read Clouds Uncover Variation in Complex Regions of the Human Genome

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Research in Computational Molecular Biology (RECOMB 2015)

Abstract

The rapid advance of next-generation sequencing (NGS) technologies has decreased the cost of genomic sequencing dramatically, enabling accurate variant discovery across whole genomes of many individuals. Current large-scale and cost-effective resequencing platforms produce reads of limited length, and as a result, reliable identification of variants within highly homologous regions of a target genome remains challenging.

A. Bishara and Y. Liu—contributed equally to this work.

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References

  1. Abecasis, G.R., Auton, A., Brooks, L.D., DePristo, M.A., Durbin, R.M., Handsaker, R.E., Kang, H.M., Marth, G.T., McVean, G.A.: An integrated map of genetic variation from 1,092 human genomes. Nature 491(7422), 56–65 (2012)

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  2. Kuleshov, V., Xie, D., Chen, R., Pushkarev, D., Ma, Z., Blauwkamp, T., Kertesz, M., Snyder, M.: Whole-genome haplotyping using long reads and statistical methods. Nat Biotechnol 32(3), 261–266 (2014)

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Correspondence to Alex Bishara .

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Bishara, A. et al. (2015). Read Clouds Uncover Variation in Complex Regions of the Human Genome. In: Przytycka, T. (eds) Research in Computational Molecular Biology. RECOMB 2015. Lecture Notes in Computer Science(), vol 9029. Springer, Cham. https://doi.org/10.1007/978-3-319-16706-0_5

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  • DOI: https://doi.org/10.1007/978-3-319-16706-0_5

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  • Publisher Name: Springer, Cham

  • Print ISBN: 978-3-319-16705-3

  • Online ISBN: 978-3-319-16706-0

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