Evidence map›Paper›PMID 38719704›Full record

ReviewTrends in cell biology2024

Decoding polygenic diseases: advances in noncoding variant prioritization and validation.

Iris M Chin, Zachary A Gardell, M Ryan Corces

Abstract readReview
In one paragraph

Review in Trends in cell biology, 2024. 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
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  5. 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

3 authors.

Iris M ChinGladstone Institute of Neurological Disease, Gladstone Institutes, San Francisco, CA, USA; Gladstone Institute of Data Science and Biotechnology, Gladstone Institutes, San Francisco, CA, USA; Department of Neurology, University of California San Francisco, San Francisco, CA, USA.
Zachary A GardellGladstone Institute of Neurological Disease, Gladstone Institutes, San Francisco, CA, USA; Gladstone Institute of Data Science and Biotechnology, Gladstone Institutes, San Francisco, CA, USA; Department of Neurology, University of California San Francisco, San Francisco, CA, USA.
M Ryan CorcesGladstone Institute of Neurological Disease, Gladstone Institutes, San Francisco, CA, USA; Gladstone Institute of Data Science and Biotechnology, Gladstone Institutes, San Francisco, CA, USA; Department of Neurology, University of California San Francisco, San Francisco, CA, USA. Electronic address: ryan.corces@gladstone.ucsf.edu.

Funding

Project 4: Cross-species Dissection of Cellular Response to APOE Genotype and AD Pathology Using Single-cell Multi-omicsP01AG073082 · NIA · J. DAVID GLADSTONE INSTITUTES · PI HUANG, YADONG, MUCKE, LENNART · 2021 to 2025
$23.4M
Single-cell Mapping Center for Human Regulatory Elements and Gene ActivityUM1HG012076 · NHGRI · STANFORD UNIVERSITY · PI Michael Ryan Corces, Ansuman Satpathy · 2021 to 2026
$13.8M
Multi-omic functional assessment of novel AD variants using high-throughput and single-cell technologiesU01AG072573 · NIA · STANFORD UNIVERSITY · PI KUNDAJE, ANSHUL, MONTGOMERY, STEPHEN · 2021 to 2025
$8.3M
Restorative practice in repairing harm and promoting safe and inclusive practices in the laboratory.T32GM136547 · NIGMS · UNIVERSITY OF CALIFORNIA, SAN FRANCISCO · PI Adrian Erlebacher, Anita Sil · 2020 to 2026
$4.5M
NHGRI NIH HHS UM1 HG012076NIA NIH HHS P01 AG073082NIA NIH HHS U01 AG072573NIGMS NIH HHS T32 GM136547
6 · The paper itself

Abstract

Genome-wide association studies (GWASs) provide a key foundation for elucidating the genetic underpinnings of common polygenic diseases. However, these studies have limitations in their ability to assign causality to particular genetic variants, especially those residing in the noncoding genome. Over the past decade, technological and methodological advances in both analytical and empirical prioritization of noncoding variants have enabled the identification of causative variants by leveraging orthogonal functional evidence at increasing scale. In this review, we present an overview of these approaches and describe how this workflow provides the groundwork necessary to move beyond associations toward genetically informed studies on the molecular and cellular mechanisms of polygenic disease.

Indexed as

Genome-Wide Association StudyMultifactorial InheritanceAnimalsGenetic Predisposition to DiseaseGenetic VariationHumansfine-mappingfunctional genomicsGWASnoncoding variantvariant effect predictionvariant prioritization

Identifiers

PMID38719704
PMCPMC12176383

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.