Evidence map›Paper›PMID 25327137›Full record

ArticleGenome research2014

In vitro, long-range sequence information for de novo genome assembly via transposase contiguity.

Andrew Adey, Jacob O Kitzman, Joshua N Burton, Riza Daza, Akash Kumar, Lena Christiansen, Mostafa Ronaghi, Sasan Amini, Kevin L Gunderson, Frank J Steemers and 1 more

Abstract read
In one paragraph

Article in Genome research, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 98 papers.

0numbers the graph read from it
0cells of the map it votes in
98citing 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

98 citing papers in PubMed.

  1. Article
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  6. The Bioinformatic Applications of Hi-C and Linked Reads.Genomics, proteomics & bioinformatics · 2024
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  14. Chromosome-level genome assembly ofHorticulture research · 2023
    Article
  15. The first chromosome-levelHorticulture research · 2023
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  16. Article
  17. Article
  18. Article
  19. Article
  20. Article

38 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

11 authors.

Andrew AdeyDepartment of Genome Sciences, University of Washington, Seattle, Washington 98115, USA;
Jacob O KitzmanDepartment of Genome Sciences, University of Washington, Seattle, Washington 98115, USA;
Joshua N BurtonDepartment of Genome Sciences, University of Washington, Seattle, Washington 98115, USA;
Riza DazaDepartment of Genome Sciences, University of Washington, Seattle, Washington 98115, USA;
Akash KumarDepartment of Genome Sciences, University of Washington, Seattle, Washington 98115, USA;
Lena ChristiansenIllumina, Inc., Advanced Research Group, San Diego, California 92122, USA.
Mostafa RonaghiIllumina, Inc., Advanced Research Group, San Diego, California 92122, USA.
Sasan AminiIllumina, Inc., Advanced Research Group, San Diego, California 92122, USA.
Kevin L GundersonIllumina, Inc., Advanced Research Group, San Diego, California 92122, USA.
Frank J SteemersIllumina, Inc., Advanced Research Group, San Diego, California 92122, USA.
Jay ShendureDepartment of Genome Sciences, University of Washington, Seattle, Washington 98115, USA; shendure@uw.edu.

Funding

University of Washington Medical Scientist Training Program: MD/PhDT32GM007266 · NIGMS · UNIVERSITY OF WASHINGTON · PI HORWITZ, MARSHALL S. · 1985 to 2023
$30.4M
INTERDISCIPLINARY TRAINING IN GENOMIC SCIENCEST32HG000035 · NHGRI · UNIVERSITY OF WASHINGTON · PI Bruce Colston Trapnell · 1995 to 2026
$24.2M
Massively Parallel Contiguity MappingR01HG006283 · NHGRI · UNIVERSITY OF WASHINGTON · PI SHENDURE, JAY ASHOK · 2011 to 2016
$3.4M
NHGRI NIH HHS HG006283NHGRI NIH HHS R01 HG006283NHGRI NIH HHS T32 HG000035NHGRI NIH HHS T32HG000035NIGMS NIH HHS T32 GM007266
6 · The paper itself

Abstract

We describe a method that exploits contiguity preserving transposase sequencing (CPT-seq) to facilitate the scaffolding of de novo genome assemblies. CPT-seq is an entirely in vitro means of generating libraries comprised of 9216 indexed pools, each of which contains thousands of sparsely sequenced long fragments ranging from 5 kilobases to > 1 megabase. These pools are "subhaploid," in that the lengths of fragments contained in each pool sums to ∼5% to 10% of the full genome. The scaffolding approach described here, termed fragScaff, leverages coincidences between the content of different pools as a source of contiguity information. Specifically, CPT-seq data is mapped to a de novo genome assembly, followed by the identification of pairs of contigs or scaffolds whose ends disproportionately co-occur in the same indexed pools, consistent with true adjacency in the genome. Such candidate "joins" are used to construct a graph, which is then resolved by a minimum spanning tree. As a proof-of-concept, we apply CPT-seq and fragScaff to substantially boost the contiguity of de novo assemblies of the human, mouse, and fly genomes, increasing the scaffold N50 of de novo assemblies by eight- to 57-fold with high accuracy. We also demonstrate that fragScaff is complementary to Hi-C-based contact probability maps, providing midrange contiguity to support robust, accurate chromosome-scale de novo genome assemblies without the need for laborious in vivo cloning steps. Finally, we demonstrate CPT-seq as a means of anchoring unplaced novel human contigs to the reference genome as well as for detecting misassembled sequences.

Indexed as

AnimalsComputational BiologyGene LibraryGenomicsHigh-Throughput Nucleotide SequencingHumansMiceSoftwareTransposasesTransposases

Identifiers

PMID25327137
PMCPMC4248320

What OpenQuestion holds

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LicenceCC BY-NC
Read underepoch 390

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.