Evidence map›Paper›PMID 34534648›Full record

ArticleGenomics2021

Characterization of full-length LINE-1 insertions in 154 genomes.

Jessica S Wong, Tanaya Jadhav, Eleanor Young, Yilin Wang, Ming Xiao

Open access · greenAbstract read
In one paragraph

Article in Genomics, 2021. 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
0.7field-weighted citation impact, top 22% 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, 5 citations in OpenAlex.

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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

5 authors at 1 institution in 1 country.

Jessica S WongSchool of Biomedical Engineering, Drexel University, Philadelphia, PA, United States of America.
Tanaya JadhavSchool of Biomedical Engineering, Drexel University, Philadelphia, PA, United States of America.
Eleanor YoungSchool of Biomedical Engineering, Drexel University, Philadelphia, PA, United States of America.
Yilin WangSchool of Biomedical Engineering, Drexel University, Philadelphia, PA, United States of America.
Ming XiaoSchool of Biomedical Engineering, Drexel University, Philadelphia, PA, United States of America; Center for Genomic Sciences, Institute of Molecular Medicine and Infectious Disease, Drexel University, Philadelphia, PA, United States of America. Electronic address: ming.xiao@drexel.edu.
Drexel University · US

Funding

Single molecule DNA mapping for genome and CNV analysisR01HG005946 · NHGRI · UNIVERSITY OF CALIFORNIA, SAN FRANCISCO · PI KWOK, PUI-YAN, XIAO, MING · 2010 to 2021
$6.5M
NHGRI NIH HHS R01 HG005946
6 · The paper itself

Abstract

Long interspersed nuclear elements (LINEs) are retrotransposons that contribute to genetic variation in the human genome. LINE-1 elements in larger-scale studies are challenging to identify using sequencing technologies due to cost and scalability. We developed an approach using optical mapping for detection of full-length LINE-1 insertions and 10× sequencing for confirmation. We found 51 true positive full-length LINE-1 insertions, of which 4 are novel insertions, in NA12878. Repeating our analysis on a larger sample set representing 26 populations, we identified 329 full-length LINE-1 elements, of which 123 are novel. 24.8% of these 329 LINE-1 insertions were shared amongst all 5 superpopulations (AFR, AMR, EUR, EAS, SAS). The African superpopulation has a higher percentage of population-specific LINE-1 insertions than any other superpopulation. These data indicate that our approach can provide high-speed, cost-effective, and increased accuracy for LINE-1 detection. These data also provide an insight into variations of LINE-1 elements between different populations.

Indexed as

Genome, HumanLong Interspersed Nucleotide ElementsBlack PeopleHumansRetroelementsRetroelementsGenomicsLINE-1

Identifiers

PMID34534648
PMCPMC8671192
OpenAlexW3199796111

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.