Evidence map›Paper›PMID 36308461›Full record

ArticleBioinformatics (Oxford, England)2022

HAT: haplotype assembly tool using short and error-prone long reads.

Ramin Shirali Hossein Zade, Aysun Urhan, Alvaro Assis de Souza, Akash Singh, Thomas Abeel

Abstract read
In one paragraph

Article in Bioinformatics (Oxford, England), 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.

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0cells of the map it votes in
2citing papers in PubMed
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3 · Its place in the literature

Who cites it

2 citing papers in PubMed.

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4 · The record

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5 · Who and what money

Authors and funding

5 authors.

Ramin Shirali Hossein ZadeDelft Bioinformatics Lab, Delft University of Technology Van Mourik, 2628 XE Delft, The Netherlands.ORCID 0000-0003-2624-0718
Aysun UrhanDelft Bioinformatics Lab, Delft University of Technology Van Mourik, 2628 XE Delft, The Netherlands.
Alvaro Assis de SouzaDelft Bioinformatics Lab, Delft University of Technology Van Mourik, 2628 XE Delft, The Netherlands.
Akash SinghDelft Bioinformatics Lab, Delft University of Technology Van Mourik, 2628 XE Delft, The Netherlands.
Thomas AbeelDelft Bioinformatics Lab, Delft University of Technology Van Mourik, 2628 XE Delft, The Netherlands.ORCID 0000-0002-7205-7431

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

motivationHaplotypes are the set of alleles co-occurring on a single chromosome and inherited together to the next generation. Because a monoploid reference genome loses this co-occurrence information, it has limited use in associating phenotypes with allelic combinations of genotypes. Therefore, methods to reconstruct the complete haplotypes from DNA sequencing data are crucial. Recently, several attempts have been made at haplotype reconstructions, but significant limitations remain. High-quality continuous haplotypes cannot be created reliably, particularly when there are few differences between the homologous chromosomes.

resultsHere, we introduce HAT, a haplotype assembly tool that exploits short and long reads along with a reference genome to reconstruct haplotypes. HAT tries to take advantage of the accuracy of short reads and the length of the long reads to reconstruct haplotypes. We tested HAT on the aneuploid yeast strain Saccharomyces pastorianus CBS1483 and multiple simulated polyploid datasets of the same strain, showing that it outperforms existing tools. AVAILABILITY AND IMPLEMENTATION: https://github.com/AbeelLab/hat/. SUPPLEMENTARY INFORMATION: Supplementary data are available at Bioinformatics online.

Indexed as

High-Throughput Nucleotide SequencingTool Use BehaviorAlgorithmsAllelesHaplotypesSequence Analysis, DNA

Identifiers

PMID36308461
PMCPMC9750119

What Socratic holds

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LicenceCC BY
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the Socratic graph.