Evidence map›Paper›PMID 23321615›Full record

ArticleEuropean journal of human genetics : EJHG2013

Mosaic copy number variation in schizophrenia.

Douglas M Ruderfer, Kim Chambert, Jennifer Moran, Michael Talkowski, Elizabeth S Chen, Carolina Gigek, James F Gusella, Douglas H Blackwood, Aiden Corvin, Hugh M Gurling and 11 more

Open access · bronzeAbstract read
In one paragraph

Article in European journal of human genetics : EJHG, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 13 papers.

0numbers the graph read from it
0cells of the map it votes in
13citing papers in PubMed
1.9field-weighted citation impact, top 14% 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

13 citing papers in PubMed, 19 citations in OpenAlex.

  1. Article
  2. Article
  3. Article
  4. Article
  5. Somatic copy number variants in neuropsychiatric disorders.Current opinion in genetics & development · 2021
    Review
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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

21 authors at 13 institutions in 6 countries.

Douglas M RuderferStanley Center for Psychiatric Research, Broad Institute, Cambridge, MA, USA.
Kim Chambert
Jennifer Moran
Michael Talkowski
Elizabeth S Chen
Carolina Gigek
James F Gusella
Douglas H Blackwood
Aiden Corvin
Hugh M Gurling
Christina M Hultman
George Kirov
Patrick Magnusson
Michael C O'Donovan
Michael J Owen
Carlos Pato
David St Clair
Patrick F Sullivan
Shaun M Purcell
Pamela Sklar
Carl Ernst
Broad Institute · USCardiff University · GBMcGill University · CACenter for Human Genetics · USKarolinska Institutet · SEIcahn School of Medicine at Mount Sinai · USMassachusetts General Hospital · USTrinity College Dublin · IEUCL Australia · AUUniversity of Aberdeen · GBUniversity of Edinburgh · GBUniversity of North Carolina at Chapel Hill · USUniversity of Southern California · US

Funding

Medical Research Council G0800509
6 · The paper itself

Abstract

Recent reports suggest that somatic structural changes occur in the human genome, but how these genomic alterations might contribute to disease is unknown. Using samples collected as part of the International Schizophrenia Consortium (schizophrenia, n=3518; control, n=4238) recruited across multiple university research centers, we assessed single-nucleotide polymorphism genotyping arrays for evidence of chromosomal anomalies. Data from genotyping arrays on each individual were processed using Birdsuite and analyzed with PLINK. We validated potential chromosomal anomalies using custom nanostring probes and quantitative PCR. We estimate chromosomal alterations in the schizophrenia population to be 0.42%, which is not significantly different from controls (0.26%). We identified and validated a set of four extremely large (>10 Mb) chromosomal anomalies in subjects with schizophrenia, including a chromosome 8 trisomy and deletion of the q arm of chromosome 7. These data demonstrate that chromosomal anomalies are present at low frequency in blood cells of both control and schizophrenia subjects.

Indexed as

DNA Copy Number VariationsCase-Control StudiesChromosomes, Human, Pair 7Chromosomes, Human, Pair 8DNA Mutational AnalysisGenetic Association StudiesGenetic Predisposition to DiseaseHumansLod ScoreMosaicismPolymorphism, Single NucleotideSchizophreniaSequence DeletionTrisomy

Identifiers

PMID23321615
PMCPMC3746263
OpenAlexW2051058088

What OpenQuestion holds

Textmetadata
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.