Evidence map›Paper›PMID 34117247›Full record

ArticleNature communications2021

Cas9 targeted enrichment of mobile elements using nanopore sequencing.

Torrin L McDonald, Weichen Zhou, Christopher P Castro, Camille Mumm, Jessica A Switzenberg, Ryan E Mills, Alan P Boyle

Abstract read
In one paragraph

Article in Nature communications, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 40 papers.

0numbers the graph read from it
0cells of the map it votes in
40citing 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

40 citing papers in PubMed.

  1. Article
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  3. Article
  4. Article
  5. Review
  6. Article
  7. Article
  8. Review
  9. Article
  10. Review
  11. Transgene Mapping in Animals: What to Choose?International journal of molecular sciences · 2025
    Review
  12. Article
  13. Article
  14. Article
  15. Review
  16. Article
  17. Review
  18. Regulation and function of transposable elements in cancer genomes.Cellular and molecular life sciences : CMLS · 2024
    Review
  19. Review
  20. Article
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

7 authors.

Torrin L McDonald *Department of Human Genetics, University of Michigan, Ann Arbor, MI, USA.
Weichen Zhou *Department of Computational Medicine and Bioinformatics, University of Michigan, Ann Arbor, MI, USA.
Christopher P CastroDepartment of Computational Medicine and Bioinformatics, University of Michigan, Ann Arbor, MI, USA.
Camille MummDepartment of Human Genetics, University of Michigan, Ann Arbor, MI, USA.
Jessica A SwitzenbergDepartment of Computational Medicine and Bioinformatics, University of Michigan, Ann Arbor, MI, USA.ORCID http://orcid.org/0000-0003-4569-3720
Ryan E MillsDepartment of Human Genetics, University of Michigan, Ann Arbor, MI, USA. remills@umich.edu.ORCID http://orcid.org/0000-0003-3425-6998
Alan P BoyleDepartment of Human Genetics, University of Michigan, Ann Arbor, MI, USA. apboyle@umich.edu.ORCID http://orcid.org/0000-0002-2081-1105

Funding

University of Michigan Training Program in Genomic ScienceT32HG000040 · NHGRI · UNIVERSITY OF MICHIGAN AT ANN ARBOR · PI Sebastian Zoellner · 1995 to 2026
$16.4M
PREDOCTORAL TRAINING IN GENETICST32GM007544 · NIGMS · UNIVERSITY OF MICHIGAN AT ANN ARBOR · PI MORAN, JOHN V. · 1985 to 2022
$11.3M
Training Program in BioinformaticsT32GM070449 · NIGMS · UNIVERSITY OF MICHIGAN AT ANN ARBOR · PI ATHEY, BRIAN DAVID, BURMEISTER, MARGIT · 2005 to 2020
$3.6M
New technologies for accurate capture and sequencing of repeat-associated regionsR21HG011493 · NHGRI · UNIVERSITY OF MICHIGAN AT ANN ARBOR · PI BOYLE, ALAN P, MILLS, RYAN E · 2021 to 2022
$643k
NHGRI NIH HHS R21 HG011493NHGRI NIH HHS T32 HG000040NIGMS NIH HHS T32 GM007544NIGMS NIH HHS T32 GM070449
6 · The paper itself

Abstract

Mobile element insertions (MEIs) are repetitive genomic sequences that contribute to genetic variation and can lead to genetic disorders. Targeted and whole-genome approaches using short-read sequencing have been developed to identify reference and non-reference MEIs; however, the read length hampers detection of these elements in complex genomic regions. Here, we pair Cas9-targeted nanopore sequencing with computational methodologies to capture active MEIs in human genomes. We demonstrate parallel enrichment for distinct classes of MEIs, averaging 44% of reads on-targeted signals and exhibiting a 13.4-54x enrichment over whole-genome approaches. We show an individual flow cell can recover most MEIs (97% L1Hs, 93% AluYb, 51% AluYa, 99% SVA_F, and 65% SVA_E). We identify seventeen non-reference MEIs in GM12878 overlooked by modern, long-read analysis pipelines, primarily in repetitive genomic regions. This work introduces the utility of nanopore sequencing for MEI enrichment and lays the foundation for rapid discovery of elusive, repetitive genetic elements.

Indexed as

CRISPR-Cas SystemsGenomicsInterspersed Repetitive SequencesCell LineDNA-Binding ProteinsGenome, HumanHumansNanopore SequencingRepetitive Sequences, Nucleic AcidRibonucleoproteinsSequence Analysis, DNADNA-Binding ProteinsRibonucleoproteins

Identifiers

PMID34117247
PMCPMC8196195

What OpenQuestion holds

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LicenceCC BY
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.