Evidence map›Paper›PMID 34211504›Full record

ReviewFrontiers in genetics2021

Scalable and Robust Regression Methods for Phenome-Wide Association Analysis on Large-Scale Biobank Data.

Wenjian Bi, Seunggeun Lee

Abstract readReview
In one paragraph

Review in Frontiers in genetics, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 7 papers.

0numbers the graph read from it
0cells of the map it votes in
7citing 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

7 citing papers in PubMed.

  1. Article
  2. Robust Mixed Model Association Test for Gene-Environment Interactions.medRxiv : the preprint server for health sciences · 2025
    Article
  3. Article
  4. SPANature communications · 2025
    Article
  5. Article
  6. Article
  7. 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

2 authors.

Wenjian BiDepartment of Medical Genetics, School of Basic Medical Sciences, Peking University, Beijing, China.
Seunggeun LeeGraduate School of Data Science, Seoul National University, Seoul, South Korea.

Funding

Statistical and computational methods for rare variant association analysisR01HG008773 · NHGRI · UNIVERSITY OF MICHIGAN AT ANN ARBOR · PI MUKHERJEE, BHRAMAR · 2016 to 2020
$1.9M
NHGRI NIH HHS R01 HG008773
6 · The paper itself

Abstract

With the advances in genotyping technologies and electronic health records (EHRs), large biobanks have been great resources to identify novel genetic associations and gene-environment interactions on a genome-wide and even a phenome-wide scale. To date, several phenome-wide association studies (PheWAS) have been performed on biobank data, which provides comprehensive insights into many aspects of human genetics and biology. Although inspiring, PheWAS on large-scale biobank data encounters new challenges including computational burden, unbalanced phenotypic distribution, and genetic relationship. In this paper, we first discuss these new challenges and their potential impact on data analysis. Then, we summarize approaches that are scalable and robust in GWAS and PheWAS. This review can serve as a practical guide for geneticists, epidemiologists, and other medical researchers to identify genetic variations associated with health-related phenotypes in large-scale biobank data analysis. Meanwhile, it can also help statisticians to gain a comprehensive and up-to-date understanding of the current technical tool development.

Indexed as

biobank data analysiselectronic health records-EHRgenetic relatednessmixed model approachesphenome-wide association studiessaddlepoint approximationunbalanced phenotypic distribution

Identifiers

PMID34211504
PMCPMC8239389

What Socratic holds

Textmetadata
LicenceCC BY
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 Socratic graph.