Evidence map›Paper›PMID 31998370›Full record

ArticleFrontiers in genetics2019

Flow Sorting Enrichment and Nanopore Sequencing of Chromosome 1 From a Chinese Individual.

Lukas F K Kuderna, Manuel Solís-Moruno, Laura Batlle-Masó, Eva Julià, Esther Lizano, Roger Anglada, Erika Ramírez, Alex Bote, Marc Tormo, Tomàs Marquès-Bonet and 2 more

Open access · goldAbstract read
In one paragraph

Article in Frontiers in genetics, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers.

0numbers the graph read from it
0cells of the map it votes in
5citing papers in PubMed
1.4field-weighted citation impact, top 16% of its field
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

5 citing papers in PubMed, 6 citations in OpenAlex.

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  4. Review
  5. Review
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

12 authors at 5 institutions in 1 country.

Lukas F K KudernaInstitut de Biologia Evolutiva, CSIC-Universitat Pompeu Fabra, Parc de Recerca Biomèdica de Barcelona (PRBB)", Barcelona, Spain.
Manuel Solís-MorunoInstitut de Biologia Evolutiva, CSIC-Universitat Pompeu Fabra, Parc de Recerca Biomèdica de Barcelona (PRBB)", Barcelona, Spain.
Laura Batlle-MasóInstitut de Biologia Evolutiva, CSIC-Universitat Pompeu Fabra, Parc de Recerca Biomèdica de Barcelona (PRBB)", Barcelona, Spain.
Eva JuliàServeis Científico-Tècnics, Institut Hospital del Mar d'Investigacions Mèdiques (IMIM), Barcelona, Spain.
Esther LizanoInstitut de Biologia Evolutiva, CSIC-Universitat Pompeu Fabra, Parc de Recerca Biomèdica de Barcelona (PRBB)", Barcelona, Spain.
Roger AngladaGenomics Core Facility, Departament de Ciències Experimentals i de la Salut, Universitat Pompeu Fabra, Parc de Recerca Biomèdica de Barcelona (PRBB), Barcelona, Spain.
Erika RamírezFlow Cytometry Unit, Centre for Genomic Regulation (CRG), The Barcelona Institute for Science and Technology (BIST), Barcelona, Spain.
Alex BoteFlow Cytometry Unit, Centre for Genomic Regulation (CRG), The Barcelona Institute for Science and Technology (BIST), Barcelona, Spain.
Marc TormoGenomics Core Facility, Departament de Ciències Experimentals i de la Salut, Universitat Pompeu Fabra, Parc de Recerca Biomèdica de Barcelona (PRBB), Barcelona, Spain.
Tomàs Marquès-BonetInstitut de Biologia Evolutiva, CSIC-Universitat Pompeu Fabra, Parc de Recerca Biomèdica de Barcelona (PRBB)", Barcelona, Spain.
Òscar FornasFlow Cytometry Unit, Centre for Genomic Regulation (CRG), The Barcelona Institute for Science and Technology (BIST), Barcelona, Spain.
Ferran CasalsGenomics Core Facility, Departament de Ciències Experimentals i de la Salut, Universitat Pompeu Fabra, Parc de Recerca Biomèdica de Barcelona (PRBB), Barcelona, Spain.
Barcelona Biomedical Research Park · ESBarcelona Institute for Science and Technology · ESInstitut de Biologia Evolutiva · ESPompeu Fabra University · ESCentre for Genomic Regulation · ES

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Sorting of individual chromosomes by Flow Cytometry (flow-sorting) is an enrichment method to potentially simplify genome assembly by isolating chromosomes from the context of the genome. We have recently developed a workflow to sequence native, unamplified DNA and applied it to the smallest human chromosome, the Y chromosome. Here, we modify improve upon that workflow to increase DNA recovery from chromosome sorting as well as sequencing yield. We apply it to sequence and assemble the largest human chromosome - chromosome 1 - of a Chinese individual using a single Oxford Nanopore MinION flow cell. We generate a selective and highly continuous assembly whose continuity reaches into the order of magnitude of the human reference GRCh38. We then use this assembly to call candidate structural variants against the reference and find 685 putative novel SV candidates. We propose this workflow as a potential solution to assemble structurally complex chromosomes, or the study of very large plant or animal genomes that might challenge traditional assembly strategies.

Indexed as

chromosome enrichmentchromosome sequencingchromosome sortingflow karyotypinggenome assemblynanopore sequencingstructural variation

Identifiers

PMID31998370
PMCPMC6962354
OpenAlexW2999280626

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.