Evidence map›Paper›PMID 33312764›Full record

ArticleCurrent genetic medicine reports2019

GWAS and Beyond: Using Omics Approaches to Interpret SNP Associations.

Hung-Hsin Chen, Lauren E Petty, William Bush, Adam C Naj, Jennifer E Below

Abstract read
In one paragraph

Article in Current genetic medicine reports, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.

0numbers the graph read from it
0cells of the map it votes in
2citing 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

2 citing papers in PubMed.

  1. Article
  2. Review
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.

Hung-Hsin ChenVanderbilt Genetics Institute, Vanderbilt University Medical Center, Nashville, TN, USA.
Lauren E PettyVanderbilt Genetics Institute, Vanderbilt University Medical Center, Nashville, TN, USA.
William BushInstitute for Computational Biology, Department of Population and Quantitative Health Sciences, School of Medicine, Case Western Reserve University, Cleveland, OH, USA.
Adam C NajDepartment of Biostatistics, Epidemiology, and Informatics; Department of Pathology and Laboratory Medicine; Center for Clinical Epidemiology and Biostatistics; Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.
Jennifer E BelowVanderbilt Genetics Institute, Vanderbilt University Medical Center, Nashville, TN, USA.

Funding

The Alzheimer Disease Sequence Analysis CollaborativeU01AG058654 · NIA · CASE WESTERN RESERVE UNIVERSITY · PI BUSH, WILLIAM S, FARRER, LINDSAY A. · 2018 to 2022
$14.6M
Hispanic Latino Lipid ConsortiumR01HL142302 · NHLBI · VANDERBILT UNIVERSITY MEDICAL CENTER · PI Jennifer Below, JOSEPH MCCORMICK · 2018 to 2026
$5.8M
Functional genetic analyses of existing data resources to expand AD gene discoveryRF1AG061351 · NIA · VANDERBILT UNIVERSITY MEDICAL CENTER · PI BELOW, JENNIFER, BUSH, WILLIAM S · 2019 to 2019
$3.0M
Pleiotropy GWAS of Alzheimer's DiseaseR01AG054060 · NIA · UNIVERSITY OF PENNSYLVANIA · PI NAJ, ADAM CHRISTIAN · 2016 to 2020
$2.1M
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
NHLBI NIH HHS R01 HL142302NIA NIH HHS R01 AG054060NIA NIH HHS RF1 AG061351NIA NIH HHS U01 AG058654NIGMS NIH HHS R01 GM126249
6 · The paper itself

Abstract

purpose of reviewNeurodegenerative diseases, neuropsychiatric disorders, and related traits have highly complex etiologies but are also highly heritable and identifying the causal genes and biological pathways underlying these traits may advance the development of treatments and preventive strategies. While many genome-wide association studies (GWAS) have successfully identified variants contributing to polygenic neurodegenerative and neuropsychiatric phenotypes including Alzheimer's disease (AD), schizophrenia (SCZ), and bipolar disorder (BPD) amongst others, interpreting the biological roles of significantly-associated variants in the genetic architecture of these traits remains a significant challenge. Here we review several 'omics' approaches which attempt to bridge the gap from associated genetic variants to phenotype by helping define the functional roles of GWAS loci in the development of neuropsychiatric disorders and traits. RECENT

findingsSeveral common 'omics' approaches have been applied to examine neuropsychiatric traits, such as nearest-gene mapping, trans-ethnic fine mapping, annotation enrichment analysis, transcriptomic analysis, and pathway analysis, and each of these approaches has strengths and limitations in providing insight into biological mechanisms. One popular emerging method is the examination of tissue-specific genetically-regulated gene expression (GReX), which aggregates the genetic variants' effects at the gene-level. Furthermore, proteomic, metabolomic, and microbiomic studies and phenome-wide association studies will further enhance our understanding of neuropsychiatric traits. SUMMARY: GWAS has been applied to neuropsychiatric traits for a decade, but our understanding about the biological function of identified variants remains limited. Today, technological advancements have created analytical approaches for integrating transcriptomics, metabolomics, proteomics, pharmacology and toxicology as tools for understanding the functional roles of genetics variants. These data, as well as the broader clinical information provided by electronic health records, can provide additional insight and complement genomic analyses.

Indexed as

Functional AnnotationFunctional InterpretationGenetically Regulated ExpressionGenome-Wide Association StudiesOmics

Identifiers

PMID33312764
PMCPMC7731888

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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.