Hap10: Reconstructing accurate and long polyploid haplotypes using linked reads

Sina Majidian, Mohammad Hossein Kahaei*, Dick De Ridder

*Corresponding author for this work

Research output: Contribution to journalArticleAcademicpeer-review

Abstract

Background: Haplotype information is essential for many genetic and genomic analyses, including genotype-phenotype associations in human, animals and plants. Haplotype assembly is a method for reconstructing haplotypes from DNA sequencing reads. By the advent of new sequencing technologies, new algorithms are needed to ensure long and accurate haplotypes. While a few linked-read haplotype assembly algorithms are available for diploid genomes, to the best of our knowledge, no algorithms have yet been proposed for polyploids specifically exploiting linked reads. Results: The first haplotyping algorithm designed for linked reads generated from a polyploid genome is presented, built on a typical short-read haplotyping method, SDhaP. Using the input aligned reads and called variants, the haplotype-relevant information is extracted. Next, reads with the same barcodes are combined to produce molecule-specific fragments. Then, these fragments are clustered into strongly connected components which are then used as input of a haplotype assembly core in order to estimate accurate and long haplotypes. Conclusions: Hap10 is a novel algorithm for haplotype assembly of polyploid genomes using linked reads. The performance of the algorithms is evaluated in a number of simulation scenarios and its applicability is demonstrated on a real dataset of sweet potato.

Original languageEnglish
Article number253
JournalBMC Bioinformatics
Volume21
Issue number1
DOIs
Publication statusPublished - 18 Jun 2020

Keywords

  • 10X genomics
  • Clustering
  • Computational genetics
  • DNA sequence analysis
  • Haplotype
  • Linked read
  • Mathematical optimization
  • Polyploid genomes
  • Synthetic long reads

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