Evidence map›Paper›PMID 36057282›Full record

ArticleHuman molecular genetics2022

Multiplexed functional genomic assays to decipher the noncoding genome.

Yonatan A Cooper, Qiuyu Guo, Daniel H Geschwind

Abstract read
In one paragraph

Article in Human molecular genetics, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 8 papers.

0numbers the graph read from it
0cells of the map it votes in
8citing 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

8 citing papers in PubMed.

  1. Review
  2. Article
  3. Article
  4. Article
  5. Article
  6. Review
  7. Article
  8. Human Molecular Genetics Review Issue 2022.Human molecular genetics · 2022
    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

3 authors.

Yonatan A CooperDepartment of Human Genetics, David Geffen School of Medicine, University of California Los Angeles, Los Angeles, CA, USA.
Qiuyu GuoCenter for Neurobehavioral Genetics, Jane and Terry Semel Institute for Neuroscience and Human Behavior, University of California Los Angeles, Los Angeles, CA, USA.
Daniel H GeschwindDepartment of Human Genetics, David Geffen School of Medicine, University of California Los Angeles, Los Angeles, CA, USA.

Funding

UCLA-Caltech Medical Scientist Training ProgramT32GM008042 · NIGMS · UNIVERSITY OF CALIFORNIA LOS ANGELES · PI AJIJOLA, OLUJIMI A, DAWSON, DAVID WAYNE · 1985 to 2023
$29.9M
Uncovering the Genetic Mechanisms of the Chromosome 17q21.31 Tau Haplotype on Neurodegeneration Risk in FTD and PSPU54NS123746 · NINDS · UNIVERSITY OF CALIFORNIA LOS ANGELES · PI GESCHWIND, DANIEL H, GOATE, ALISON M · 2021 to 2025
$9.4M
2/2-Discovery and validation of neuronal enhancers associated with the development of psychiatric disordersU01MH116489 · NIMH · UNIVERSITY OF CHICAGO · PI GAYNOR, SOPHIA, GESCHWIND, DANIEL H · 2018 to 2022
$4.5M
Impact of coding and non-coding variation in progressive supranuclear palsyUG3NS104095 · NINDS · UNIVERSITY OF CALIFORNIA LOS ANGELES · PI DICKSON, DENNIS WILLIAM, GESCHWIND, DANIEL H · 2017 to 2019
$3.6M
Systematic Characterization of Tauopathy-Associated Genetic Variation using Multiplexed Reporter AssaysF30AG064832 · NIA · UNIVERSITY OF CALIFORNIA LOS ANGELES · PI COOPER, YONATAN · 2019 to 2022
$177k
NIA NIH HHS F30 AG064832NIGMS NIH HHS T32 GM008042NIH HHS T32-GM008042NIMH NIH HHS 5U01MH116489-05NIMH NIH HHS U01 MH116489NINDS NIH HHS U54 NS123746NINDS NIH HHS UG3 NS104095NINDS NIH HHS UG3NS104095
6 · The paper itself

Abstract

Linkage disequilibrium and the incomplete regulatory annotation of the noncoding genome complicates the identification of functional noncoding genetic variants and their causal association with disease. Current computational methods for variant prioritization have limited predictive value, necessitating the application of highly parallelized experimental assays to efficiently identify functional noncoding variation. Here, we summarize two distinct approaches, massively parallel reporter assays and CRISPR-based pooled screens and describe their flexible implementation to characterize human noncoding genetic variation at unprecedented scale. Each approach provides unique advantages and limitations, highlighting the importance of multimodal methodological integration. These multiplexed assays of variant effects are undoubtedly poised to play a key role in the experimental characterization of noncoding genetic risk, informing our understanding of the underlying mechanisms of disease-associated loci and the development of more robust predictive classification algorithms.

Indexed as

GenomeGenomicsAlgorithmsGenome-Wide Association StudyHumansLinkage Disequilibrium

Identifiers

PMID36057282
PMCPMC9585676

What Socratic holds

Textmetadata
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.