Elife December 2022 PMID 36515579

The missing link between genetic association and regulatory function.

Noah J Connally, Sumaiya Nazeen, Daniel Lee, Huwenbo Shi, John Stamatoyannopoulos, Sung Chun, Chris Cotsapas, Christopher A Cassa, Shamil R Sunyaev

Mentions

85
Peak: 28 in Oct 2021
across 5 sources since Jun 2021

Extended reach

264,714
potential audience

Total likes

269

Video views

36

Mentions per month

Jun 2021 – Sep 2024

Where it's discussed

  • X / Twitter78 posts
  • YouTube2 videos
  • News2 articles
  • Blogs2 articles
  • Bluesky1 posts

AI synopsis

What people are saying

Several discussions highlighted the paper's challenge to existing assumptions about gene expression affecting GWAS results, using phrases like 'important paper' and 'thought-provoking challenge,' which indicate a serious consideration of the publication's implications. The tone in these examples reflects urgency and significance, suggesting that many participants see the need for deeper exploration of the topic and innovative approaches to model gene regulation.

AgreementModerate agreement

Most discussions express a shared understanding of the challenges presented in the publication, with many recognizing the limitations of GWAS.

InterestHigh interest

There is a high level of curiosity and relevance indicated by the number of discussions that highlight the paper as important and thought-provoking.

EngagementModerate engagement

While some comments show surface-level reactions, others delve into the implications of the findings, suggesting that the topic resonates with many respondents.

ImpactHigh impact

Participants perceive the research as having significant implications for how genetic associations and regulatory functions are understood, indicating a broader impact on genetic research.

Abstract in brief

  • The genetic basis of traits is mainly polygenic and influenced by non-coding alleles, which are thought to have minor regulatory roles in gene expression.
  • Despite having access to extensive gene expression and epigenomic data, few connections between genetic variants and gene activity have been established.
  • A study identified 220 gene-trait pairs influenced by protein-coding variants, revealing little evidence that typical gene expression explains associations with complex traits, indicating a need for improved models to understand these complexities.

Top posts

Most liked on X and Bluesky
GWAS_lit
@GWAS_lit · X

The missing link between genetic association and regulatory function https://t.co/GajvtgRdWv https://t.co/DLlsNgGLdD

Oct 27, 2021 · 95 likes · 22 shares · 5,980 followers View post →
John Greally
@greally · X

Recommended: thought-provoking challenge to our current mainstream post-GWAS approaches to find causative variants, led by Shamil Sunyaev's group @HarvardDBMI The missing link between genetic association and regulatory function https://t.co/EAdVHzQw9K

Oct 14, 2022 · 58 likes · 14 shares · 3,058 followers View post →
Clint Miller
@clintomics · X

Linking GWAS to gene regulation ⁦@NatureGenet⁩ highlights recent work from Sunyaev lab arguing for more nuanced models of gene regulation to interpret complex disease loci https://t.co/jAizchF80P https://t.co/afkmjDTAJ6

Feb 13, 2023 · 33 likes · 2 shares · 1,599 followers View post →
Vladimir Seplyarskiy
@seplyarskiy · X

Provocatively study leaded by Noah Connaly in Sunyaev lab: cis eQTLs in disease associated genes are really contributing to phenotype. The missing link between genetic association and regulatory function https://t.co/rffKozhp5E

Dec 15, 2022 · 22 likes · 5 shares · 197 followers View post →
C. Brandon Ogbunu
@big_data_kane · X

This looks dope The missing link between genetic association and regulatory function https://t.co/R7hXoIhVim

Jan 23, 2023 · 16 likes · 2 shares · 8,481 followers View post →
peter sterling
@whatishealth21 · X

Uh Oh! A problem for understanding how many genes of small effect regulate complex traits. New theory needed. The missing link between genetic association and regulatory function https://t.co/oznGVUeOdM

Jan 18, 2023 · 10 likes · 3,514 followers View post →

All mentions

Anne Fausto-Sterling
@Fausto_Sterling · X

https://t.co/OrOv7XHn0Q Seems like GWAS studies are not very informative (being polite here). "The missing link between genetic association and regulatory function" #GWAS #MissingRegulatoryLink

Sep 30, 2024 · 1 like · 8,135 followers View post →
Anne Fausto-Sterling
@birdlady.bsky.social · Bluesky

elifesciences.org/articles/74970 Seems like GWAS studies are not very informative (being polite here). "The missing link between genetic association and regulatory function" #medsky #bioethics #devsky #science #HPBio

Sep 30, 2024 · 4 likes · 3 shares View post →
Genome Sequencing Program
@NHGRI_GSP · X

The missing link between genetic association and regulatory function https://t.co/MUroVQcwor

Apr 7, 2023 · 550 followers View post →
Jessica Chong
@jxchong · X

RT @miltondp: Very interesting paper challenging the common assumption that effects on gene expression mediate #GWAS hits. The missing lin…

Feb 24, 2023 · 4 shares · 2,083 followers View post →
Bioinformatics Trends 
@BinfoTrends · X

RT @miltondp: Very interesting paper challenging the common assumption that effects on gene expression mediate #GWAS hits. The missing lin…

Feb 24, 2023 · 4 shares · 8,163 followers View post →
Milton Pividori
@miltondp · X

Very interesting paper challenging the common assumption that effects on gene expression mediate #GWAS hits. The missing link between genetic association and regulatory function https://t.co/eysWRBNrUj

Feb 24, 2023 · 7 likes · 4 shares · 486 followers View post →
Ryan Logan
@wickedneuro · X

RT @westr: The missing link between genetic association and regulatory function @eLife https://t.co/vgPKc2j69j #GWAS #eQTL #enhancers #Gene…

Feb 20, 2023 · 2 shares · 2,939 followers View post →
Bioinformatics Trends 
@BinfoTrends · X

RT @westr: The missing link between genetic association and regulatory function @eLife https://t.co/vgPKc2j69j #GWAS #eQTL #enhancers #Gene…

Feb 20, 2023 · 2 shares · 8,163 followers View post →
Robert West, PhD ✝️
@westr · X

The missing link between genetic association and regulatory function @eLife https://t.co/vgPKc2j69j #GWAS #eQTL #enhancers #GeneRegulation A long-held assumption re: "#missingheritability" largely fails to hold water; a "#missingregulation" model attempts to address this. https://t.co/sXweKlWYBj

Feb 20, 2023 · 3 likes · 2 shares · 19,312 followers View post →
Hanrui Zhang
@hanrui_zhang · X

RT @clintomics: Linking GWAS to gene regulation ⁦@NatureGenet⁩ highlights recent work from Sunyaev lab arguing for more nuanced models of g…

Feb 13, 2023 · 2 shares · 1,156 followers View post →
Nyawira.
@NyawiraNjoroge · X

RT @clintomics: Linking GWAS to gene regulation ⁦@NatureGenet⁩ highlights recent work from Sunyaev lab arguing for more nuanced models of g…

Feb 13, 2023 · 2 shares · 9,469 followers View post →
Clint Miller
@clintomics · X

Linking GWAS to gene regulation ⁦@NatureGenet⁩ highlights recent work from Sunyaev lab arguing for more nuanced models of gene regulation to interpret complex disease loci https://t.co/jAizchF80P https://t.co/afkmjDTAJ6

Feb 13, 2023 · 33 likes · 2 shares · 1,599 followers View post →
Victor V. Lobanenkov
@boris_ctcf · X

The missing link between genetic association and regulatory function https://t.co/DcnUa8KWhi https://t.co/qxM71lRrdj

Jan 28, 2023 · 2,051 followers View post →
Milton Tan
@mtanichthys · X

RT @big_data_kane: This looks dope The missing link between genetic association and regulatory function https://t.co/R7hXoIhVim

Jan 24, 2023 · 2 shares · 5,092 followers View post →
C. Brandon Ogbunu
@big_data_kane · X

This looks dope The missing link between genetic association and regulatory function https://t.co/R7hXoIhVim

Jan 23, 2023 · 16 likes · 2 shares · 8,481 followers View post →
Sumaiya Nazeen
@snz20 · X

RT @seplyarskiy: Provocatively study leaded by Noah Connaly in Sunyaev lab: cis eQTLs in disease associated genes are really contributing t…

Jan 20, 2023 · 5 shares · 342 followers View post →
Ilya Ruvinsky
@RuvinskyIlya · X

https://t.co/M8ViMOCE8s

Jan 18, 2023 · 1 like · 819 followers View post →
peter sterling
@whatishealth21 · X

Uh Oh! A problem for understanding how many genes of small effect regulate complex traits. New theory needed. The missing link between genetic association and regulatory function https://t.co/oznGVUeOdM

Jan 18, 2023 · 10 likes · 3,514 followers View post →
Janet Piñero
@Janis3_14159 · X

The missing link between genetic association and regulatory function https://t.co/VRsIEDj4zN https://t.co/yqGBRGzVpf

Dec 21, 2022 · 770 followers View post →
Yu Chen
@normacyyyyyy · X

RT @seplyarskiy: Provocatively study leaded by Noah Connaly in Sunyaev lab: cis eQTLs in disease associated genes are really contributing t…

Dec 20, 2022 · 5 shares · 50 followers View post →
Thibault Mesplède, M.Sc., Ph.D.
@ThibaultMespled · X

RT @GreggNeuroLab: Important paper. This problem ain't going to be easy and will require actual focused experiments. The missing link betwe…

Dec 16, 2022 · 1 share · 356 followers View post →
Eduardo Maury, MD, PhD
@emauryg · X

RT @seplyarskiy: Provocatively study leaded by Noah Connaly in Sunyaev lab: cis eQTLs in disease associated genes are really contributing t…

Dec 15, 2022 · 5 shares · 666 followers View post →
eQTLpapers
@eQTL_papers · X

The missing link between genetic association and regulatory function https://t.co/2xMHt8d40a https://t.co/PR8UOHZiyS

Dec 15, 2022 · 1 like · 626 followers View post →
christopher gregg
@GreggNeuroLab · X

Important paper. This problem ain't going to be easy and will require actual focused experiments. The missing link between genetic association and regulatory function https://t.co/7n6UeSl5dk

Dec 15, 2022 · 1 like · 1 share · 952 followers View post →
Luke O'Connor
@Luke0connor · X

RT @seplyarskiy: Provocatively study leaded by Noah Connaly in Sunyaev lab: cis eQTLs in disease associated genes are really contributing t…

Dec 15, 2022 · 5 shares · 1,811 followers View post →
Evan Koch
@Evan_M_Koch · X

RT @seplyarskiy: Provocatively study leaded by Noah Connaly in Sunyaev lab: cis eQTLs in disease associated genes are really contributing t…

Dec 15, 2022 · 5 shares · 93 followers View post →
Vladimir Seplyarskiy
@seplyarskiy · X

Provocatively study leaded by Noah Connaly in Sunyaev lab: cis eQTLs in disease associated genes are really contributing to phenotype. The missing link between genetic association and regulatory function https://t.co/rffKozhp5E

Dec 15, 2022 · 22 likes · 5 shares · 197 followers View post →
Jente Ottenburghs | Avian Hybrids
@Jente_O · X

The missing link between genetic association and regulatory function | eLife https://t.co/6Pyhle6134

Dec 15, 2022 · 5 likes · 4,043 followers View post →
Sumaiya Nazeen
@snz20 · X

RT @greally: Recommended: thought-provoking challenge to our current mainstream post-GWAS approaches to find causative variants, led by Sha…

Nov 21, 2022 · 14 shares · 342 followers View post →
Sumaiya Nazeen
@snz20 · X

RT @medrxivpreprint: #PeerReview from @eLife of

Nov 21, 2022 · 2 shares · 342 followers View post →
Rodrigo Nunes Cal
@CalZole · X

RT @greally: Recommended: thought-provoking challenge to our current mainstream post-GWAS approaches to find causative variants, led by Sha…

Nov 16, 2022 · 14 shares · 3,780 followers View post →
Yann Klimentidis
@YKlimentidis · X

The missing link between genetic association and regulatory function https://t.co/VLu6frGGEd

Oct 17, 2022 · 1 like · 117 followers View post →
Kushal K Dey
@kanishkadey · X

RT @greally: Recommended: thought-provoking challenge to our current mainstream post-GWAS approaches to find causative variants, led by Sha…

Oct 15, 2022 · 14 shares · 819 followers View post →
Michael Love
@mikelove · X

RT @greally: Recommended: thought-provoking challenge to our current mainstream post-GWAS approaches to find causative variants, led by Sha…

Oct 15, 2022 · 14 shares · 16,360 followers View post →
Pat Adams
@PathologyPat · X

RT @greally: Recommended: thought-provoking challenge to our current mainstream post-GWAS approaches to find causative variants, led by Sha…

Oct 15, 2022 · 14 shares · 1,514 followers View post →
priya joseph
@ayirpelle · X

RT @greally: Recommended: thought-provoking challenge to our current mainstream post-GWAS approaches to find causative variants, led by Sha…

Oct 14, 2022 · 14 shares · 4,945 followers View post →
DePorcell
@sbguarch · X

RT @greally: Recommended: thought-provoking challenge to our current mainstream post-GWAS approaches to find causative variants, led by Sha…

Oct 14, 2022 · 14 shares · 1,844 followers View post →
Michael Wainberg
@michaelwainberg · X

RT @greally: Recommended: thought-provoking challenge to our current mainstream post-GWAS approaches to find causative variants, led by Sha…

Oct 14, 2022 · 14 shares · 646 followers View post →
Geetha Saarunya, PhD
@DrSaarunya · X

RT @greally: Recommended: thought-provoking challenge to our current mainstream post-GWAS approaches to find causative variants, led by Sha…

Oct 14, 2022 · 14 shares · 577 followers View post →
DBMI at Harvard Med
@HarvardDBMI · X

RT @greally: Recommended: thought-provoking challenge to our current mainstream post-GWAS approaches to find causative variants, led by Sha…

Oct 14, 2022 · 14 shares · 7,447 followers View post →
Vladimir Seplyarskiy
@seplyarskiy · X

RT @medrxivpreprint: #PeerReview from @eLife of

Oct 14, 2022 · 2 shares · 197 followers View post →
Evan Koch
@Evan_M_Koch · X

RT @greally: Recommended: thought-provoking challenge to our current mainstream post-GWAS approaches to find causative variants, led by Sha…

Oct 14, 2022 · 14 shares · 93 followers View post →
Alex Bush
@AlexBush2022 · X

RT @greally: Recommended: thought-provoking challenge to our current mainstream post-GWAS approaches to find causative variants, led by Sha…

Oct 14, 2022 · 14 shares · 18 followers View post →
Jonathan Mitchel
@J_E_Mitchel · X

RT @greally: Recommended: thought-provoking challenge to our current mainstream post-GWAS approaches to find causative variants, led by Sha…

Oct 14, 2022 · 14 shares · 243 followers View post →
Anshul Kundaje (anshulkundaje@bluesky)
@anshulkundaje · X

RT @greally: Recommended: thought-provoking challenge to our current mainstream post-GWAS approaches to find causative variants, led by Sha…

Oct 14, 2022 · 14 shares · 27,166 followers View post →
John Greally
@greally · X

Recommended: thought-provoking challenge to our current mainstream post-GWAS approaches to find causative variants, led by Shamil Sunyaev's group @HarvardDBMI The missing link between genetic association and regulatory function https://t.co/EAdVHzQw9K

Oct 14, 2022 · 58 likes · 14 shares · 3,058 followers View post →
medRxiv
@medrxivpreprint · X

#PeerReview from @eLife of

Oct 10, 2022 · 1 like · 2 shares · 17,454 followers View post →
Diego Forero MD, PhD
@daforerog · X

The missing link between genetic association and regulatory function https://t.co/ExdCyEUtM5

Oct 31, 2021 · 1 like · 1,595 followers View post →
Eve Beavers of espacetimeNOT & espacetimeCO
@espacetimeCO · X

RT @SA_Diabetes: "...causative eQTLs may only manifest in certain developmental windows, under specific conditions, or in a crucial cell su…

Oct 29, 2021 · 3 shares · 899 followers View post →
Yves Lussier
@LussierY · X

RT @GWAS_lit: The missing link between genetic association and regulatory function https://t.co/GajvtgRdWv https://t.co/DLlsNgGLdD

Oct 29, 2021 · 22 shares · 1,387 followers View post →
Chris Anderson
@CDAndersonMD · X

RT @GWAS_lit: The missing link between genetic association and regulatory function https://t.co/GajvtgRdWv https://t.co/DLlsNgGLdD

Oct 28, 2021 · 22 shares · 542 followers View post →
Jim Johnson, PhD
@JimJohnsonSci · X

RT @SA_Diabetes: "...causative eQTLs may only manifest in certain developmental windows, under specific conditions, or in a crucial cell su…

Oct 28, 2021 · 3 shares · 12,823 followers View post →
Peter Aldiss, PhD
@Peter_Aldiss · X

RT @SA_Diabetes: "...causative eQTLs may only manifest in certain developmental windows, under specific conditions, or in a crucial cell su…

Oct 28, 2021 · 3 shares · 2,659 followers View post →
Luke Norton
@SA_Diabetes · X

"...causative eQTLs may only manifest in certain developmental windows, under specific conditions, or in a crucial cell subpopulation" Very good discussion in this paper. The missing link between genetic association and regulatory function https://t.co/YVTJ1kHuZd

Oct 28, 2021 · 5 likes · 3 shares · 752 followers View post →
Judith Zaugg
@zauggj · X

RT @GWAS_lit: The missing link between genetic association and regulatory function https://t.co/GajvtgRdWv https://t.co/DLlsNgGLdD

Oct 28, 2021 · 22 shares · 2,029 followers View post →
Agnieszka Golicz
@AgnieszkaGolicz · X

RT @GWAS_lit: The missing link between genetic association and regulatory function https://t.co/GajvtgRdWv https://t.co/DLlsNgGLdD

Oct 28, 2021 · 22 shares · 538 followers View post →
LifeNome Inc.
@LifeNome · X

RT @GWAS_lit: The missing link between genetic association and regulatory function https://t.co/GajvtgRdWv https://t.co/DLlsNgGLdD

Oct 28, 2021 · 22 shares · 225 followers View post →
Sudhanshu Shekhar
@S_Shekhar__ · X

RT @GWAS_lit: The missing link between genetic association and regulatory function https://t.co/GajvtgRdWv https://t.co/DLlsNgGLdD

Oct 28, 2021 · 22 shares · 481 followers View post →
Scott Tyler (@ScienceScottT@genomic.social)
@ScienceScottT · X

RT @GWAS_lit: The missing link between genetic association and regulatory function https://t.co/GajvtgRdWv https://t.co/DLlsNgGLdD

Oct 28, 2021 · 22 shares · 1,351 followers View post →
Vaclav Janousek
@vjanousk · X

RT @GWAS_lit: The missing link between genetic association and regulatory function https://t.co/GajvtgRdWv https://t.co/DLlsNgGLdD

Oct 28, 2021 · 22 shares · 42 followers View post →
Juan Martinez-Villalobos
@Jhonmart3 · X

RT @GWAS_lit: The missing link between genetic association and regulatory function https://t.co/GajvtgRdWv https://t.co/DLlsNgGLdD

Oct 28, 2021 · 22 shares · 1,540 followers View post →
priya joseph
@ayirpelle · X

RT @GWAS_lit: The missing link between genetic association and regulatory function https://t.co/GajvtgRdWv https://t.co/DLlsNgGLdD

Oct 28, 2021 · 22 shares · 4,945 followers View post →
ROMY ROY
@romyroyz · X

RT @GWAS_lit: The missing link between genetic association and regulatory function https://t.co/GajvtgRdWv https://t.co/DLlsNgGLdD

Oct 28, 2021 · 22 shares · 351 followers View post →
theus • its not that deep
@paracetamath · X

RT @GWAS_lit: The missing link between genetic association and regulatory function https://t.co/GajvtgRdWv https://t.co/DLlsNgGLdD

Oct 28, 2021 · 22 shares · 3,078 followers View post →
Joo-Yeon Lee
@jylee521 · X

RT @GWAS_lit: The missing link between genetic association and regulatory function https://t.co/GajvtgRdWv https://t.co/DLlsNgGLdD

Oct 28, 2021 · 22 shares · 1 followers View post →
hu.asch
@hu_asch · X

RT @GWAS_lit: The missing link between genetic association and regulatory function https://t.co/GajvtgRdWv https://t.co/DLlsNgGLdD

Oct 28, 2021 · 22 shares · 24 followers View post →
Alfred Pozarickij
@evogen_p · X

RT @GWAS_lit: The missing link between genetic association and regulatory function https://t.co/GajvtgRdWv https://t.co/DLlsNgGLdD

Oct 28, 2021 · 22 shares · 45 followers View post →
MariamH
@mariamH_22 · X

RT @GWAS_lit: The missing link between genetic association and regulatory function https://t.co/GajvtgRdWv https://t.co/DLlsNgGLdD

Oct 27, 2021 · 22 shares · 344 followers View post →
Karsten Suhre
@ksuhre · X

RT @GWAS_lit: The missing link between genetic association and regulatory function https://t.co/GajvtgRdWv https://t.co/DLlsNgGLdD

Oct 27, 2021 · 22 shares · 2,558 followers View post →
Huanwei Wang
@huanwei_wang · X

RT @GWAS_lit: The missing link between genetic association and regulatory function https://t.co/GajvtgRdWv https://t.co/DLlsNgGLdD

Oct 27, 2021 · 22 shares · 467 followers View post →
Huwenbo Shi (時胡文博)
@shihuwenbo · X

RT @GWAS_lit: The missing link between genetic association and regulatory function https://t.co/GajvtgRdWv https://t.co/DLlsNgGLdD

Oct 27, 2021 · 22 shares · 809 followers View post →
Imran S. Haque (@ihaque@{bsky,genomic}.social)
@ImranSHaque · X

RT @GWAS_lit: The missing link between genetic association and regulatory function https://t.co/GajvtgRdWv https://t.co/DLlsNgGLdD

Oct 27, 2021 · 22 shares · 2,223 followers View post →
GenomeArc
@genomearc · X

RT @GWAS_lit: The missing link between genetic association and regulatory function https://t.co/GajvtgRdWv https://t.co/DLlsNgGLdD

Oct 27, 2021 · 22 shares · 1,107 followers View post →
W David Hill
@WDavidHill · X

RT @GWAS_lit: The missing link between genetic association and regulatory function https://t.co/GajvtgRdWv https://t.co/DLlsNgGLdD

Oct 27, 2021 · 22 shares · 900 followers View post →
GWAS_lit
@GWAS_lit · X

The missing link between genetic association and regulatory function https://t.co/GajvtgRdWv https://t.co/DLlsNgGLdD

Oct 27, 2021 · 95 likes · 22 shares · 5,980 followers View post →
Sumaiya Nazeen
@snz20 · X

RT @medrxivpreprint: The missing link between genetic association and regulatory function https://t.co/C82nAymnWj #medRxiv

Jun 13, 2021 · 2 shares · 342 followers View post →
Dr.M.A.A.O.W.
@Marieaaow · X

The missing link between genetic association and regulatory function not Peered! https://t.co/cUJiWnyjKw

Jun 11, 2021 · 1 like · 14,487 followers View post →
Armin Raznahan
@bogglerapture · X

RT @medrxivpreprint: The missing link between genetic association and regulatory function https://t.co/C82nAymnWj #medRxiv

Jun 11, 2021 · 2 shares · 2,214 followers View post →
medRxiv
@medrxivpreprint · X

The missing link between genetic association and regulatory function https://t.co/C82nAymnWj #medRxiv

Jun 11, 2021 · 3 likes · 2 shares · 17,454 followers View post →