Evidence map›Paper›PMID 35581355›Full record

ReviewNature reviews. Genetics2022

Opportunities and challenges for the use of common controls in sequencing studies.

Genevieve L Wojcik, Jessica Murphy, Jacob L Edelson, Christopher R Gignoux, Alexander G Ioannidis, Alisa Manning, Manuel A Rivas, Steven Buyske, Audrey E Hendricks

Registry-linked trialAbstract readReview
In one paragraph

Review in Nature reviews. Genetics, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT06362278 (A Multi-omics Study of Patients With Premature Coronary Artery Disease in the Absence of Common Risk Factors), which is not on this map. Cited by 22 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
22citing 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.

NCT06362278 unknown statusnot on this mapstarted 2024, after this paper: background citation

A Multi-omics Study of Patients With Premature Coronary Artery Disease in the Absence of Common Risk Factors

TypeobservationalSponsorThe First Affiliated Hospital with Nanjing Medical UniversityRan2024 to 2025Enrolled160ConditionsCoronary Artery DiseaseArmsmulti-omics studies
3 · Its place in the literature

Who cites it

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

  1. Pooled it
  2. Approach to the patient: genetics and management of congenital hypothyroidism.The Journal of clinical endocrinology and metabolism · 2026
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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

9 authors.

Genevieve L WojcikDepartment of Epidemiology, Johns Hopkins Bloomberg School of Public Health, Baltimore, MD, USA.ORCID 0000-0001-7206-8088
Jessica MurphyBiostatistics and Informatics, Colorado School of Public Health, Aurora, CO, USA.
Jacob L EdelsonDepartment of Biomedical Data Science, Stanford Medical School, Stanford, CA, USA.ORCID 0000-0002-0734-9753
Christopher R GignouxBiostatistics and Informatics, Colorado School of Public Health, Aurora, CO, USA.
Alexander G IoannidisInstitute for Computational and Mathematical Engineering, Stanford University, Stanford, CA, USA.ORCID 0000-0002-4735-7803
Alisa ManningMetabolism Program, Broad Institute, Cambridge, MA, USA.ORCID 0000-0003-0247-902X
Manuel A RivasDepartment of Biomedical Data Science, Stanford Medical School, Stanford, CA, USA.
Steven BuyskeDepartment of Statistics, Rutgers University, Piscataway, NJ, USA.ORCID 0000-0001-8539-5416
Audrey E HendricksBiostatistics and Informatics, Colorado School of Public Health, Aurora, CO, USA. audrey.hendricks@ucdenver.edu.ORCID 0000-0002-7152-0287

Funding

Optimizing imputation for diverse populations in a distributed frameworkU01HG009080 · NHGRI · STANFORD UNIVERSITY · PI KENNY, EIMEAR ELIZABETH · 2016 to 2020
$5.2M
NHGRI Genome Sequencing Program Coordinating CenterU24HG008956 · NHGRI · RUTGERS, THE STATE UNIV OF N.J. · PI BUYSKE, STEVEN G, MATISE, TARA C. · 2016 to 2020
$4.9M
The influence of genetic ancestry and population-specific epidemiology on the transferability of genomic findings to diverse and admixed populationsR35HG011944 · NHGRI · JOHNS HOPKINS UNIVERSITY · PI WOJCIK, GENEVIEVE LIANNE · 2021 to 2025
$2.3M
Methods to enable robust and efficient use of genetic summary dataR35HG011293 · NHGRI · UNIVERSITY OF COLORADO DENVER · PI HENDRICKS, AUDREY E · 2020 to 2024
$2.1M
NHGRI NIH HHS R35 HG011293NHGRI NIH HHS R35 HG011944NHGRI NIH HHS U01 HG009080NHGRI NIH HHS U24 HG008956
6 · The paper itself

Abstract

Genome-wide association studies using large-scale genome and exome sequencing data have become increasingly valuable in identifying associations between genetic variants and disease, transforming basic research and translational medicine. However, this progress has not been equally shared across all people and conditions, in part due to limited resources. Leveraging publicly available sequencing data as external common controls, rather than sequencing new controls for every study, can better allocate resources by augmenting control sample sizes or providing controls where none existed. However, common control studies must be carefully planned and executed as even small differences in sample ascertainment and processing can result in substantial bias. Here, we discuss challenges and opportunities for the robust use of common controls in high-throughput sequencing studies, including study design, quality control and statistical approaches. Thoughtful generation and use of large and valuable genetic sequencing data sets will enable investigation of a broader and more representative set of conditions, environments and genetic ancestries than otherwise possible.

Indexed as

ExomeGenome-Wide Association StudyExome SequencingGenetic Predisposition to DiseaseHigh-Throughput Nucleotide SequencingHumans

Identifiers

PMID35581355
PMCPMC9765323

What OpenQuestion holds

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Registered trials

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.