Evidence map›Paper›PMID 34158502›Full record

ArticleNature communications2021

Comprehensive identification of transposable element insertions using multiple sequencing technologies.

Chong Chu, Rebeca Borges-Monroy, Vinayak V Viswanadham, Soohyun Lee, Heng Li, Eunjung Alice Lee, Peter J Park

Open access · goldAbstract 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 83 papers.

0numbers the graph read from it
0cells of the map it votes in
83citing papers in PubMed
17.7field-weighted citation impact, top 1% 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

83 citing papers in PubMed, 104 citations in OpenAlex.

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23 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

7 authors at 2 institutions in 1 country.

Chong ChuDepartment of Biomedical Informatics, Harvard Medical School, Boston, MA, USA.ORCID http://orcid.org/0000-0002-0796-2339
Rebeca Borges-MonroyDivision of Genetics and Genomics, Boston Children's Hospital and Harvard Medical School, Boston, MA, USA.ORCID http://orcid.org/0000-0001-5821-7630
Vinayak V ViswanadhamDepartment of Biomedical Informatics, Harvard Medical School, Boston, MA, USA.ORCID http://orcid.org/0000-0002-0236-6490
Soohyun LeeDepartment of Biomedical Informatics, Harvard Medical School, Boston, MA, USA.
Heng LiDepartment of Biomedical Informatics, Harvard Medical School, Boston, MA, USA.
Eunjung Alice LeeDivision of Genetics and Genomics, Boston Children's Hospital and Harvard Medical School, Boston, MA, USA. ealice.lee@childrens.harvard.edu.
Peter J ParkDepartment of Biomedical Informatics, Harvard Medical School, Boston, MA, USA. peter_park@hms.harvard.edu.ORCID http://orcid.org/0000-0001-9378-960X
Harvard University · USBroad Institute · US

Funding

RESEARCH TRAINING-MEDICAL INFORMATICS 90T15LM007092 · NLM · HARVARD UNIVERSITY (SCH OF PUBLIC HLTH) · PI Nils Gehlenborg · 1992 to 2026
$32.8M
Training Program in Bioinformatics and Integrative GenomicsT32HG002295 · NHGRI · MASSACHUSETTS INSTITUTE OF TECHNOLOGY · PI Peter J Park · 2001 to 2026
$15.8M
1/2-Somatic mosaicism and autism spectrum disorderU01MH106883 · NIMH · BOSTON CHILDREN'S HOSPITAL · PI PARK, PETER J, WALSH, CHRISTOPHER A. · 2015 to 2019
$9.2M
Mechanism for endogenous retroelements to mimic ancient exogenous identities in aging and diseased human tissueDP2AG072437 · NIA · BOSTON CHILDREN'S HOSPITAL · PI LEE, EUNJUNG ALICE · 2020 to 2020
$2.7M
Identification of Transposable Element Insertions in the Kids First DataR03CA249364 · NCI · HARVARD MEDICAL SCHOOL · PI PARK, PETER J · 2020 to 2021
$338k
NCI NIH HHS R03 CA249364NHGRI NIH HHS T32 HG002295NIA NIH HHS DP2 AG072437NIMH NIH HHS U01 MH106883NLM NIH HHS T15 LM007092
6 · The paper itself

Abstract

Transposable elements (TEs) help shape the structure and function of the human genome. When inserted into some locations, TEs may disrupt gene regulation and cause diseases. Here, we present xTea (x-Transposable element analyzer), a tool for identifying TE insertions in whole-genome sequencing data. Whereas existing methods are mostly designed for short-read data, xTea can be applied to both short-read and long-read data. Our analysis shows that xTea outperforms other short read-based methods for both germline and somatic TE insertion discovery. With long-read data, we created a catalogue of polymorphic insertions with full assembly and annotation of insertional sequences for various types of retroelements, including pseudogenes and endogenous retroviruses. Notably, we find that individual genomes have an average of nine groups of full-length L1s in centromeres, suggesting that centromeres and other highly repetitive regions such as telomeres are a significant yet unexplored source of active L1s. xTea is available at https://github.com/parklab/xTea .

Indexed as

Mutagenesis, InsertionalDNA Transposable ElementsGene RearrangementGenetic VariationGenome, HumanGenomicsHaplotypesHumansMolecular Sequence AnnotationPseudogenesWhole Genome SequencingDNA Transposable Elements

Identifiers

PMID34158502
PMCPMC8219666
OpenAlexW3175538314

What OpenQuestion holds

Textmetadata
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.