Evidence map›Paper›PMID 22935230›Full record

ArticleMutation research

Harnessing genomics to identify environmental determinants of heritable disease.

Carole Lyn Yauk, J Lucas Argueso, Scott S Auerbach, Philip Awadalla, Sean R Davis, David M DeMarini, George R Douglas, Yuri E Dubrova, Rosalie K Elespuru, Thomas W Glover and 19 more

Abstract read
In one paragraph

Article in Mutation research. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 6 papers.

0numbers the graph read from it
0cells of the map it votes in
6citing papers in PubMed
2.9field-weighted citation impact, top 9% 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

6 citing papers in PubMed, 29 citations in OpenAlex.

  1. Review
  2. Article
  3. Genetic Effect of Chemotherapy Exposure in Children of Testicular Cancer Survivors.Clinical cancer research : an official journal of the American Association for Cancer Research · 2016
    Article
  4. Review
  5. Article
  6. Paternal lifestyle as a potential source of germline mutations transmitted to offspring.FASEB journal : official publication of the Federation of American Societies for Experimental Biology · 2013
    Article
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

29 authors at 18 institutions in 4 countries.

Carole Lyn YaukHealth Canada, Canada. Electronic address: carole.yauk@hc-sc.gc.ca.
J Lucas ArguesoColorado State University, United States.
Scott S AuerbachNational Institute of Environmental Health Sciences, United States.
Philip AwadallaUniversité de Montréal, Canada.
Sean R DavisNational Institutes of Health, United States.
David M DeMariniUnited States Environmental Protection Agency, United States.
George R DouglasHealth Canada, Canada.
Yuri E DubrovaUniversity of Leicester, United Kingdom.
Rosalie K ElespuruUnited States Food and Drug Administration, United States.
Thomas W GloverUniversity of Michigan, United States.
Barbara F HalesMcGill University, Canada.
Matthew E HurlesWellcome Trust Sanger Institute, United Kingdom.
Catherine B KleinNew York University School of Medicine, United States.
James R LupskiBaylor College of Medicine, United States.
David K ManchesterChildren's Hospital Colorado, United States.
Francesco MarchettiHealth Canada, Canada.
Alexandre MontpetitMcGill University, Canada.
John J MulvihillUniversity of Oklahoma Health Sciences Center, United States.
Bernard RobaireMcGill University, Canada.
Wendie A RobbinsUniversity of California Los Angeles, United States.
Guy A RouleauUniversité de Montréal, Canada.
Daniel T ShaughnessyNational Institute of Environmental Health Sciences, United States.
Christopher M SomersUniversity of Regina, Canada.
James G TaylorNational Heart Lung and Blood Institute, United States.
Jacquetta TraslerMcGill University, Canada.
Michael D WatersIntegrated Laboratory Systems, Inc, United States.
Thomas E WilsonUniversity of Michigan, United States.
Kristine L WittNational Institute of Environmental Health Sciences, United States.
Jack B BishopNational Institute of Environmental Health Sciences, United States.
McGill University · CANational Institute of Environmental Health Sciences · USHealth Canada · CAUniversité de Montréal · CAUniversity of Michigan · USBaylor College of Medicine · USBoston Children's Hospital · USColorado State University · USEnvironmental Protection Agency · USNational Heart Lung and Blood Institute · USNational Institutes of Health · USUnited States Food and Drug Administration · USUniversity of California, Los Angeles · USUniversity of Leicester · GBUniversity of Oklahoma Health Sciences Center · USUniversity of Regina · CAUniversity School · USWellcome Sanger Institute · GB

Funding

Genomic Determinants of Phenotypes of Sickle Cell DiseaseZIAHL006160 · NHLBI · NATIONAL HEART, LUNG, AND BLOOD INSTITUTE · PI TAYLOR, JAMES · 2012 to 2016
$5.1M
Prevalence and Prognosis of Pulmonary Hypertension in Adults with Sickle CellZIAHL006012 · NHLBI · NATIONAL HEART, LUNG, AND BLOOD INSTITUTE · PI TAYLOR, JAMES · 2009 to 2016
$3.5M
Intramural NIH HHS ZIA HL006160
6 · The paper itself

Abstract

Next-generation sequencing technologies can now be used to directly measure heritable de novo DNA sequence mutations in humans. However, these techniques have not been used to examine environmental factors that induce such mutations and their associated diseases. To address this issue, a working group on environmentally induced germline mutation analysis (ENIGMA) met in October 2011 to propose the necessary foundational studies, which include sequencing of parent-offspring trios from highly exposed human populations, and controlled dose-response experiments in animals. These studies will establish background levels of variability in germline mutation rates and identify environmental agents that influence these rates and heritable disease. Guidance for the types of exposures to examine come from rodent studies that have identified agents such as cancer chemotherapeutic drugs, ionizing radiation, cigarette smoke, and air pollution as germ-cell mutagens. Research is urgently needed to establish the health consequences of parental exposures on subsequent generations.

Indexed as

Gene-Environment InteractionGenomicsAnimalsEnvironmental PollutantsGenetic Diseases, InbornGerm-Line MutationHumansRadiation EffectsTobacco ProductsEnvironmental Pollutants

Identifiers

PMID22935230
PMCPMC3556182
OpenAlexW1994794137

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.