論文

国際誌
2016年8月31日

Short tandem repeat number estimation from paired-end reads for multiple individuals by considering coalescent tree.

BMC genomics
  • Kaname Kojima
  • ,
  • Yosuke Kawai
  • ,
  • Naoki Nariai
  • ,
  • Takahiro Mimori
  • ,
  • Takanori Hasegawa
  • ,
  • Masao Nagasaki

17 Suppl 5
開始ページ
494
終了ページ
494
記述言語
英語
掲載種別
研究論文(学術雑誌)
DOI
10.1186/s12864-016-2821-0

BACKGROUND: Two types of approaches are mainly considered for the repeat number estimation in short tandem repeat (STR) regions from high-throughput sequencing data: approaches directly counting repeat patterns included in sequence reads spanning the region and approaches based on detecting the difference between the insert size inferred from aligned paired-end reads and the actual insert size. Although the accuracy of repeat numbers estimated with the former approaches is high, the size of target STR regions is limited to the length of sequence reads. On the other hand, the latter approaches can handle STR regions longer than the length of sequence reads. However, repeat numbers estimated with the latter approaches is less accurate than those with the former approaches. RESULTS: We proposed a new statistical model named coalescentSTR that estimates repeat numbers from paired-end read distances for multiple individuals simultaneously by connecting the read generative model for each individual with their genealogy. In the model, the genealogy is represented by handling coalescent trees as hidden variables, and the summation of the hidden variables is taken on coalescent trees sampled based on phased genotypes located around a target STR region with Markov chain Monte Carlo. In the sampled coalescent trees, repeat number information from insert size data is propagated, and more accurate estimation of repeat numbers is expected for STR regions longer than the length of sequence reads. For finding the repeat numbers maximizing the likelihood of the model on the estimation of repeat numbers, we proposed a state-of-the-art belief propagation algorithm on sampled coalescent trees. CONCLUSIONS: We verified the effectiveness of the proposed approach from the comparison with existing methods by using simulation datasets and real whole genome and whole exome data for HapMap individuals analyzed in the 1000 Genomes Project.

リンク情報
DOI
https://doi.org/10.1186/s12864-016-2821-0
PubMed
https://www.ncbi.nlm.nih.gov/pubmed/27586631
PubMed Central
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5009668
ID情報
  • DOI : 10.1186/s12864-016-2821-0
  • PubMed ID : 27586631
  • PubMed Central 記事ID : PMC5009668

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