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DOI: 10.4230/LIPIcs.WABI.2018.4

Haplotype-aware graph indexes

Authors: Jouni Sirén, Erik Garrison, Adam M. Novak, Benedict J. Paten, and Richard Durbin

Published in: LIPIcs, Volume 113, 18th International Workshop on Algorithms in Bioinformatics (WABI 2018)

Abstract

The variation graph toolkit (VG) represents genetic variation as a graph. Each path in the graph is a potential haplotype, though most paths are unlikely recombinations of true haplotypes. We augment the VG model with haplotype information to identify which paths are more likely to be correct. For this purpose, we develop a scalable implementation of the graph extension of the positional Burrows-Wheeler transform. We demonstrate the scalability of the new implementation by indexing the 1000 Genomes Project haplotypes. We also develop an algorithm for simplifying variation graphs for k-mer indexing without losing any k-mers in the haplotypes.

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Jouni Sirén, Erik Garrison, Adam M. Novak, Benedict J. Paten, and Richard Durbin. Haplotype-aware graph indexes. In 18th International Workshop on Algorithms in Bioinformatics (WABI 2018). Leibniz International Proceedings in Informatics (LIPIcs), Volume 113, pp. 4:1-4:13, Schloss Dagstuhl – Leibniz-Zentrum für Informatik (2018)

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@InProceedings{siren_et_al:LIPIcs.WABI.2018.4,
  author =	{Sir\'{e}n, Jouni and Garrison, Erik and Novak, Adam M. and Paten, Benedict J. and Durbin, Richard},
  title =	{{Haplotype-aware graph indexes}},
  booktitle =	{18th International Workshop on Algorithms in Bioinformatics (WABI 2018)},
  pages =	{4:1--4:13},
  series =	{Leibniz International Proceedings in Informatics (LIPIcs)},
  ISBN =	{978-3-95977-082-8},
  ISSN =	{1868-8969},
  year =	{2018},
  volume =	{113},
  editor =	{Parida, Laxmi and Ukkonen, Esko},
  publisher =	{Schloss Dagstuhl -- Leibniz-Zentrum f{\"u}r Informatik},
  address =	{Dagstuhl, Germany},
  URL =		{https://drops.dagstuhl.de/entities/document/10.4230/LIPIcs.WABI.2018.4},
  URN =		{urn:nbn:de:0030-drops-93060},
  doi =		{10.4230/LIPIcs.WABI.2018.4},
  annote =	{Keywords: FM-indexes, variation graphs, haplotypes}
}

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DOI: 10.4230/DagSemProc.08261.10

Storage and Retrieval of Individual Genomes

Authors: Veli Mäkinen, Gonzalo Navarro, Jouni Sirén, and Niko Välimäki

Published in: Dagstuhl Seminar Proceedings, Volume 8261, Structure-Based Compression of Complex Massive Data (2008)

Abstract

A repetitive sequence collection is one where portions of a emph{base sequence} of length $n$ are repeated many times with small variations, forming a collection of total length $N$. Examples of such collections are version control data and genome sequences of individuals, where the differences can be expressed by lists of basic edit operations. Flexible and efficient data analysis on a such typically huge collection is plausible using suffix trees. However, suffix tree occupies $O(N log N)$ bits, which very soon inhibits in-memory analyses. Recent advances in full-text emph{self-indexing} reduce the space of suffix tree to $O(N log sigma)$ bits, where $sigma$ is the alphabet size. In practice, the space reduction is more than $10$-fold for example on suffix tree of Human Genome. However, this reduction remains a constant factor when more sequences are added to the collection We develop a new self-index suited for the repetitive sequence collection setting. Its expected space requirement depends only on the length $n$ of the base sequence and the number $s$ of variations in its repeated copies. That is, the space reduction is no longer constant, but depends on $N/n$. We believe the structure developed in this work will provide a fundamental basis for storage and retrieval of individual genomes as they become available due to rapid progress in the sequencing technologies.

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Veli Mäkinen, Gonzalo Navarro, Jouni Sirén, and Niko Välimäki. Storage and Retrieval of Individual Genomes. In Structure-Based Compression of Complex Massive Data. Dagstuhl Seminar Proceedings, Volume 8261, pp. 1-14, Schloss Dagstuhl – Leibniz-Zentrum für Informatik (2008)

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@InProceedings{makinen_et_al:DagSemProc.08261.10,
  author =	{M\"{a}kinen, Veli and Navarro, Gonzalo and Sir\'{e}n, Jouni and V\"{a}lim\"{a}ki, Niko},
  title =	{{Storage and Retrieval of Individual Genomes}},
  booktitle =	{Structure-Based Compression of Complex Massive Data},
  pages =	{1--14},
  series =	{Dagstuhl Seminar Proceedings (DagSemProc)},
  ISSN =	{1862-4405},
  year =	{2008},
  volume =	{8261},
  editor =	{Stefan B\"{o}ttcher and Markus Lohrey and Sebastian Maneth and Wojcieh Rytter},
  publisher =	{Schloss Dagstuhl -- Leibniz-Zentrum f{\"u}r Informatik},
  address =	{Dagstuhl, Germany},
  URL =		{https://drops.dagstuhl.de/entities/document/10.4230/DagSemProc.08261.10},
  URN =		{urn:nbn:de:0030-drops-16743},
  doi =		{10.4230/DagSemProc.08261.10},
  annote =	{Keywords: Pattern matching, text indexing, compressed data structures, comparative genomics}
}

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Haplotype-aware graph indexes

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Storage and Retrieval of Individual Genomes

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