Evidence map›Paper›PMID 27749838›Full record

ArticleNature methods2016

Phased diploid genome assembly with single-molecule real-time sequencing.

Chen-Shan Chin, Paul Peluso, Fritz J Sedlazeck, Maria Nattestad, Gregory T Concepcion, Alicia Clum, Christopher Dunn, Ronan O'Malley, Rosa Figueroa-Balderas, Abraham Morales-Cruz and 7 more

Abstract read
In one paragraph

Article in Nature methods, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1,095 papers.

0numbers the graph read from it
0cells of the map it votes in
1,095citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

1,095 citing papers in PubMed.

  1. Article
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  5. Complete genome sequence ofMicrobiology resource announcements · 2026
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  12. Review
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  16. Chromosome-Level Genome Assembly and Annotation of theJournal of fungi (Basel, Switzerland) · 2026
    Article
  17. Article
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  20. Complete genome sequence of the endophyticMicrobiology resource announcements · 2026
    Article

1,035 more citing papers are in PubMed but not listed here.

4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

17 authors.

Chen-Shan ChinPacific Biosciences, Menlo Park, California, USA.ORCID http://orcid.org/0000-0003-4394-2455
Paul PelusoPacific Biosciences, Menlo Park, California, USA.
Fritz J SedlazeckDepartment of Computer Science, Johns Hopkins University, Baltimore, Maryland, USA.ORCID http://orcid.org/0000-0001-6040-2691
Maria NattestadSimons Center for Quantitative Biology, Cold Spring Harbor Laboratory, Cold Spring Harbor, New York, USA.
Gregory T ConcepcionPacific Biosciences, Menlo Park, California, USA.
Alicia ClumDOE Joint Genome Institute, Walnut Creek, California, USA.
Christopher DunnPacific Biosciences, Menlo Park, California, USA.ORCID http://orcid.org/0000-0002-0601-3254
Ronan O'MalleyGenomic Analysis Laboratory, The Salk Institute for Biological Studies, La Jolla, California, USA.
Rosa Figueroa-BalderasDepartment of Viticulture and Enology, University of California Davis, Davis, California, USA.
Abraham Morales-CruzDepartment of Viticulture and Enology, University of California Davis, Davis, California, USA.
Grant R CramerDepartment of Biochemistry and Molecular Biology, University of Nevada, Reno, Nevada, USA.ORCID http://orcid.org/0000-0002-2374-4091
Massimo DelledonneDipartimento di Biotecnologie, Universita' degli Studi di Verona, Verona, Italy.
Chongyuan LuoGenomic Analysis Laboratory, The Salk Institute for Biological Studies, La Jolla, California, USA.
Joseph R EckerGenomic Analysis Laboratory, The Salk Institute for Biological Studies, La Jolla, California, USA.
Dario CantuDepartment of Viticulture and Enology, University of California Davis, Davis, California, USA.ORCID http://orcid.org/0000-0002-4858-1508
David R RankPacific Biosciences, Menlo Park, California, USA.
Michael C SchatzDepartment of Computer Science, Johns Hopkins University, Baltimore, Maryland, USA.

Funding

Computational Methods for Genome Assembly, Transcript Assembly, and Variant DiscoveryR01HG006677 · NHGRI · JOHNS HOPKINS UNIVERSITY · PI SALZBERG, STEVEN L. · 2011 to 2025
$10.7M
NHGRI NIH HHS R01 HG006677
6 · The paper itself

Abstract

While genome assembly projects have been successful in many haploid and inbred species, the assembly of noninbred or rearranged heterozygous genomes remains a major challenge. To address this challenge, we introduce the open-source FALCON and FALCON-Unzip algorithms (https://github.com/PacificBiosciences/FALCON/) to assemble long-read sequencing data into highly accurate, contiguous, and correctly phased diploid genomes. We generate new reference sequences for heterozygous samples including an F1 hybrid of Arabidopsis thaliana, the widely cultivated Vitis vinifera cv. Cabernet Sauvignon, and the coral fungus Clavicorona pyxidata, samples that have challenged short-read assembly approaches. The FALCON-based assemblies are substantially more contiguous and complete than alternate short- or long-read approaches. The phased diploid assembly enabled the study of haplotype structure and heterozygosities between homologous chromosomes, including the identification of widespread heterozygous structural variation within coding sequences.

Indexed as

DiploidyAlgorithmsArabidopsisBasidiomycotaDNA, FungalDNA, PlantGenome, FungalGenome, PlantGenomicsHaplotypesHeterozygoteHumansPolymorphism, Single NucleotideSequence Analysis, DNAVitisDNA, FungalDNA, Plant

Identifiers

PMID27749838
PMCPMC5503144

What OpenQuestion holds

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Registered trials

None linked

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 OpenQuestion graph.