Evidence map›Paper›PMID 20602999›Full record

ArticleCell2010

Mobile interspersed repeats are major structural variants in the human genome.

Cheng Ran Lisa Huang, Anna M Schneider, Yunqi Lu, Tejasvi Niranjan, Peilin Shen, Matoya A Robinson, Jared P Steranka, David Valle, Curt I Civin, Tao Wang and 4 more

Open access · bronzeAbstract read
In one paragraph

Article in Cell, 2010. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 163 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
163citing papers in PubMed, 1 pooled it
50.9field-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

163 citing papers in PubMed, 1 synthesis or guideline pooled it, 255 citations in OpenAlex.

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103 more citing papers are in PubMed but not listed here.

4 · The record

Corrections and comments

5 · Who and what money

Authors and funding

14 authors at 1 institution in 1 country.

Cheng Ran Lisa HuangInstitute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD 21287, USA.
Anna M Schneider
Yunqi Lu
Tejasvi Niranjan
Peilin Shen
Matoya A Robinson
Jared P Steranka
David Valle
Curt I Civin
Tao Wang
Sarah J Wheelan
Hongkai Ji
Jef D Boeke
Kathleen H Burns
Johns Hopkins University · US

Funding

TRANSPOSITION OF TN7P01CA016519 · NCI · JOHNS HOPKINS UNIVERSITY · PI GREIDER, CAROL W · 1985 to 2010
$21.4M
Predoctoral Training Program in Human GeneticsT32GM007814 · NIGMS · JOHNS HOPKINS UNIVERSITY · PI VALLE, DAVID · 1985 to 2021
$10.6M
Applying transposon mapping technology to describe human genetic diversityRC1HG005359 · NHGRI · JOHNS HOPKINS UNIVERSITY · PI BOEKE, JEF D · 2009 to 2010
$997k
Investigating the role of retrotransposons in hematopoietic neoplasias.K08CA134746 · NCI · JOHNS HOPKINS UNIVERSITY · PI BURNS, KATHLEEN H · 2008 to 2012
$702k
NCI NIH HHS K08 CA134746NCI NIH HHS K08-CA134746NCI NIH HHS P01 CA016519NCI NIH HHS P01-CA16319NHGRI NIH HHS RC1 HG005359NIGMS NIH HHS T32 GM007814
6 · The paper itself

Abstract

Characterizing structural variants in the human genome is of great importance, but a genome wide analysis to detect interspersed repeats has not been done. Thus, the degree to which mobile DNAs contribute to genetic diversity, heritable disease, and oncogenesis remains speculative. We perform transposon insertion profiling by microarray (TIP-chip) to map human L1(Ta) retrotransposons (LINE-1 s) genome-wide. This identified numerous novel human L1(Ta) insertional polymorphisms with highly variant allelic frequencies. We also explored TIP-chip's usefulness to identify candidate alleles associated with different phenotypes in clinical cohorts. Our data suggest that the occurrence of new insertions is twice as high as previously estimated, and that these repeats are under-recognized as sources of human genomic and phenotypic diversity. We have just begun to probe the universe of human L1(Ta) polymorphisms, and as TIP-chip is applied to other insertions such as Alu SINEs, it will expand the catalog of genomic variants even further.

Indexed as

DNA Transposable ElementsGenome, HumanGenome-Wide Association StudyOligonucleotide Array Sequence AnalysisChromosomes, Human, XDNA Restriction EnzymesGenetic Diseases, X-LinkedHumansMaleDNA Restriction EnzymesDNA Transposable Elements

Identifiers

PMID20602999
PMCPMC2943426
OpenAlexW2019469673

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.