Evidence map›Paper›PMID 19569043›Full record

ReviewAmerican journal of hematology2009

Genome-wide association studies and the genetic dissection of complex traits.

Paola Sebastiani, Nadia Timofeev, Daniel A Dworkis, Thomas T Perls, Martin H Steinberg

Abstract readReview
In one paragraph

Review in American journal of hematology, 2009. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 28 papers.

0numbers the graph read from it
0cells of the map it votes in
28citing papers in PubMed
–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

28 citing papers in PubMed.

  1. Review
  2. Article
  3. Review
  4. Article
  5. Article
  6. Article
  7. Review
  8. Genetic architecture of Alzheimer's disease.Neurobiology of disease · 2020
    Review
  9. Article
  10. Article
  11. Article
  12. Article
  13. Article
  14. Review
  15. Article
  16. Genetic modifiers of sickle cell disease.American journal of hematology · 2012
    Review
  17. Article
  18. Article
  19. Article
  20. 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

5 authors.

Paola SebastianiDepartment of Biostatistics, Boston University School of Public Health, Boston, Massachusetts 02118, USA. sebas@bu.edu
Nadia Timofeev
Daniel A Dworkis
Thomas T Perls
Martin H Steinberg

Funding

Genetic Modulation of Sickle Cell DiseaseR01HL068970 · NHLBI · BOSTON UNIVERSITY MEDICAL CAMPUS · PI STEINBERG, MARTIN H. · 2001 to 2010
$7.0M
Genome-Wide Association Studies in Sickle Cell Anemia and in CentenariansR01HL087681 · NHLBI · BOSTON UNIVERSITY MEDICAL CAMPUS · PI STEINBERG, MARTIN H. · 2007 to 2010
$6.0M
Determinants of HbF Response to HydroxyureaR01HL070735 · NHLBI · BOSTON UNIVERSITY MEDICAL CAMPUS · PI STEINBERG, MARTIN H. · 2002 to 2005
$2.9M
NHLBI NIH HHS R01 HL068970NHLBI NIH HHS R01 HL070735NHLBI NIH HHS R01 HL087681NHLBI NIH HHS R01-HL68970NHLBI NIH HHS R01-HL70735NHLBI NIH HHS R01-HL87681
6 · The paper itself

Abstract

The availability of affordable high throughput technology for parallel genotyping has opened the field of genetics to genome-wide association studies (GWAS), and in the last few years hundreds of articles reporting results of GWAS for a variety of heritable traits have been published. What do these results tell us? Although GWAS have discovered a few hundred reproducible associations, this number is underwhelming in relation to the huge amount of data produced, and challenges the conjecture that common variants may be the genetic causes of common diseases. We argue that the massive amount of genetic data that result from these studies remains largely unexplored and unexploited because of the challenge of mining and modeling enormous data sets, the difficulty of using nontraditional computational techniques and the focus of accepted statistical analyses on controlling the false positive rate rather than limiting the false negative rate. In this article, we will review the common approach to analysis of GWAS data and then discuss options to learn more from these data. We will use examples from our ongoing studies of sickle cell anemia and also GWAS in multigenic traits.

Indexed as

Genome, HumanGenome-Wide Association StudyAnemia, Sickle CellAnimalsHumansQuantitative Trait LociSequence Analysis, DNA

Identifiers

PMID19569043
PMCPMC2895326

What OpenQuestion holds

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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.