Evidence map›Paper›PMID 25387710›Full record

ArticlePsychophysiology2014

In search of rare variants: preliminary results from whole genome sequencing of 1,325 individuals with psychophysiological endophenotypes.

Scott I Vrieze, Stephen M Malone, Uma Vaidyanathan, Alan Kwong, Hyun Min Kang, Xiaowei Zhan, Matthew Flickinger, Daniel Irons, Goo Jun, Adam E Locke and 8 more

Abstract readTwin Study
In one paragraph

Article in Psychophysiology, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 20 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
20citing papers in PubMed, 1 pooled it
–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

20 citing papers in PubMed, 1 synthesis or guideline pooled it.

  1. Pooled it
  2. Review
  3. Article
  4. Review
  5. Article
  6. Article
  7. Whole genome sequence association and ancestry-informed polygenic profile of EEG alpha in a Native American population.American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics · 2017
    Article
  8. What can time-frequency and phase coherence measures tell us about the genetic basis of P3 amplitude?International journal of psychophysiology : official journal of the International Organization of Psychophysiology · 2017
    Article
  9. Article
  10. The genetics of anxiety-related negative valence system traits.American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics · 2017
    Review
  11. Article
  12. Article
  13. Article
  14. Article
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  17. 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

18 authors.

Scott I VriezeDepartment of Biostatistics, University of Michigan, Ann Arbor, Michigan, USA.
Stephen M Malone
Uma Vaidyanathan
Alan Kwong
Hyun Min Kang
Xiaowei Zhan
Matthew Flickinger
Daniel Irons
Goo Jun
Adam E Locke
Giorgio Pistis
Eleonora Porcu
Shawn Levy
Richard M Myers
William Oetting
Matt McGue
Goncalo Abecasis
William G Iacono

Funding

Substance Abuse & Behavioral Disinhibition: Integrating Genes & EnvironmentU01DA024417 · NIDA · UNIVERSITY OF MINNESOTA · PI IACONO, WILLIAM G. · 2007 to 2010
$10.8M
Studies of Rare Genetic Variation in the Isolated Population of SardiniaR01HL117626 · NHLBI · UNIVERSITY OF MICHIGAN AT ANN ARBOR · PI ABECASIS, GONCALO · 2013 to 2016
$10.5M
TWIN STUDY OF FEMALE ALCOHOLISMS AND OTHER DISORDERSR01AA009367 · NIAAA · UNIVERSITY OF MINNESOTA TWIN CITIES · PI MCGUE, MATTHEW K. · 1992 to 2013
$9.0M
Twin Family Study of Vulnerability to Substance AbuseR37DA005147 · NIDA · UNIVERSITY OF MINNESOTA · PI IACONO, WILLIAM G. · 2009 to 2018
$6.4M
Studies of Rare Genetic Variation in the Isolated Population of SardiniaU01HL117626 · NHLBI · UNIVERSITY OF MICHIGAN AT ANN ARBOR · PI ABECASIS, GONCALO · 2017 to 2018
$6.3M
TWIN/FAMILY STUDY OF VULNERABILITY TO SUBSTANCE ABUSER01DA005147 · NIDA · UNIVERSITY OF MINNESOTA TWIN CITIES · PI IACONO, WILLIAM G · 1987 to 2007
$5.5M
Adolescent drinking and midlife outcomes: A prospective cotwin control studyR37AA009367 · NIAAA · UNIVERSITY OF MINNESOTA · PI MCGUE, MATTHEW K. · 2016 to 2024
$5.4M
TWIN STUDY OF ADHD, CD, AND SUBSTANCE ABUSER01DA013240 · NIDA · UNIVERSITY OF MINNESOTA TWIN CITIES · PI IACONO, WILLIAM G. · 2000 to 2010
$5.0M
Adult consequences of youth substance use: Twin study enriched for SUD riskR01DA036216 · NIDA · UNIVERSITY OF MINNESOTA · PI IACONO, WILLIAM G. · 2013 to 2017
$3.2M
Computational and statistical models for human geneticsR01HG007022 · NHGRI · UNIVERSITY OF MICHIGAN AT ANN ARBOR · PI ABECASIS, GONCALO · 2012 to 2016
$3.0M
Substance Abuse & Behavioral Disinhibition: Integrating Genes & EnvironmentR01DA024417 · NIDA · UNIVERSITY OF MINNESOTA · PI IACONO, WILLIAM G. · 2011 to 2011
$1.6M
Delineating Gene, Environment, & Development Interplay in Substance Use DisordersR01DA034606 · NIDA · UNIVERSITY OF MICHIGAN AT ANN ARBOR · PI HICKS, BRIAN M · 2013 to 2015
$706k
NHGRI NIH HHS HG007022NHGRI NIH HHS R01 HG007022NHLBI NIH HHS HL117626NHLBI NIH HHS R01 HL117626NHLBI NIH HHS U01 HL117626NIAAA NIH HHS AA09367NIAAA NIH HHS R01 AA009367NIAAA NIH HHS R37 AA009367NIDA NIH HHS DA024417NIDA NIH HHS DA034606NIDA NIH HHS DA036216NIDA NIH HHS DA05147NIDA NIH HHS DA13240NIDA NIH HHS R01 DA005147NIDA NIH HHS R01 DA013240NIDA NIH HHS R01 DA024417NIDA NIH HHS R01 DA034606NIDA NIH HHS R01 DA036216NIDA NIH HHS R37 DA005147NIDA NIH HHS U01 DA024417
6 · The paper itself

Abstract

Whole genome sequencing was completed on 1,325 individuals from 602 families, identifying 27 million autosomal variants. Genetic association tests were conducted for those individuals who had been assessed for one or more of 17 endophenotypes (N range = 802-1,185). No significant associations were found. These 27 million variants were then imputed into the full sample of individuals with psychophysiological data (N range = 3,088-4,469) and again tested for associations with the 17 endophenotypes. No association was significant. Using a gene-based variable threshold burden test of nonsynonymous variants, we obtained five significant associations. These findings are preliminary and call for additional analysis of this rich sample. We argue that larger samples, alternative study designs, and additional bioinformatics approaches will be necessary to discover associations between these endophenotypes and genomic variation.

Indexed as

EndophenotypesGenotypePolymorphism, Single NucleotideBrainElectroencephalographyEvent-Related Potentials, P300Galvanic Skin ResponseGenetic Association StudiesHumansReflex, StartleSaccadesSensory GatingTwinsAntisaccadeEEGEndophenotypeP300PsychophysiologyRare variantStartleWhole genome sequencing

Identifiers

PMID25387710
PMCPMC4231480

What OpenQuestion holds

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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.