Evidence map›Paper›PMID 32662945›Full record

ReviewCurrent protocols in human genetics2020

Identification and Genotyping of Transposable Element Insertions From Genome Sequencing Data.

Chong Chu, Boxun Zhao, Peter J Park, Eunjung Alice Lee

Abstract readReview
In one paragraph

Review in Current protocols in human genetics, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 12 papers.

0numbers the graph read from it
0cells of the map it votes in
12citing 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

12 citing papers in PubMed.

  1. Article
  2. Review
  3. Article
  4. Article
  5. Article
  6. Article
  7. Review
  8. Review
  9. Review
  10. Review
  11. Article
  12. 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

4 authors.

Chong ChuDepartment of Biomedical Informatics, Harvard Medical School, Boston, Massachusetts.
Boxun ZhaoDivision of Genetics and Genomics, The Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, Massachusetts.
Peter J ParkDepartment of Biomedical Informatics, Harvard Medical School, Boston, Massachusetts.
Eunjung Alice LeeDivision of Genetics and Genomics, The Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, Massachusetts.

Funding

The role of somatic mutation in neurodegenerative diseaseK01AG051791 · NIA · BRIGHAM AND WOMEN'S HOSPITAL · PI LEE, EUNJUNG ALICE · 2016 to 2020
$655k
NIA NIH HHS K01 AG051791
6 · The paper itself

Abstract

Transposable element (TE) mobilization is a significant source of genomic variation and has been associated with various human diseases. The exponential growth of population-scale whole-genome sequencing and rapid innovations in long-read sequencing technologies provide unprecedented opportunities to study TE insertions and their functional impact in human health and disease. Identifying TE insertions, however, is challenging due to the repetitive nature of the TE sequences. Here, we review computational approaches to detecting and genotyping TE insertions using short- and long-read sequencing and discuss the strengths and weaknesses of different approaches. © 2020 Wiley Periodicals LLC.

Indexed as

Molecular Sequence AnnotationChromosome MappingDNA Transposable ElementsGenomicsGenotypeHumansSequence Analysis, DNAWhole Genome SequencingDNA Transposable Elementslong-read sequencingmobile elementretrotranspositionstructural variation

Identifiers

PMID32662945
PMCPMC8906366

What OpenQuestion holds

Textmetadata
LicenceTDM
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.