Evidence map›Paper›PMID 34991903›Full record

ReviewTrends in genetics : TIG2022

Maturation and application of phenome-wide association studies.

Shiying Liu, Dana C Crawford

Abstract readReview
In one paragraph

Review in Trends in genetics : TIG, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 12 papers.

0numbers the graph read from it
0cells of the map it votes in
12citing 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

12 citing papers in PubMed.

  1. Article
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  4. Review
  5. Review
  6. Article
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  10. 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

2 authors.

Shiying LiuDepartment of Population and Quantitative Health Sciences, Case Western Reserve University, Cleveland, OH 44106, USA.
Dana C CrawfordDepartment of Population and Quantitative Health Sciences, Case Western Reserve University, Cleveland, OH 44106, USA; Department of Genetics and Genome Sciences, Case Western Reserve University, Cleveland, OH 44106, USA; Cleveland Institute for Computational Biology, Case Western Reserve University, Cleveland, OH 44106, USA. Electronic address: dcc64@case.edu.

Funding

Clinical and Translational Science Collaborative of ClevelandUL1TR002548 · NCATS · CASE WESTERN RESERVE UNIVERSITY · PI MCCOMSEY, GRACE A · 2018 to 2022
$35.5M
An Atlas of Clinical Associations mapping to Variants within Protein StructuresR01GM126249 · NIGMS · CASE WESTERN RESERVE UNIVERSITY · PI BUSH, WILLIAM S, CRAWFORD, DANA C · 2018 to 2020
$910k
NCATS NIH HHS UL1 TR002548NIGMS NIH HHS R01 GM126249
6 · The paper itself

Abstract

In the past 10 years since its introduction, phenome-wide association studies (PheWAS) have uncovered novel genotype-phenotype relationships. Along the way, PheWAS have evolved in many aspects as a study design with the expanded availability of large data repositories with genome-wide data linked to detailed phenotypic data. Advancement in methods, including algorithms, software, and publicly available integrated resources, makes it feasible to more fully realize the potential of PheWAS, overcoming the previous computational and analytical limitations. We review here the most recent improvements and notable applications of PheWAS since the second half of the decade from its inception. We also note the challenges that remain embedded along the entire PheWAS analytical pipeline that necessitate further development of tools and resources to further advance the understanding of the complex genetic architecture underlying human diseases and traits.

Indexed as

Genome-Wide Association StudyPolymorphism, Single NucleotideAlgorithmsPhenotypeSoftwarecross-phenotype associationsphenome-wide association studiespleiotropy

Identifiers

PMID34991903
PMCPMC8930498

What OpenQuestion holds

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Registered trials

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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.