Genome wide association study gateway—transitioning variants from association to causality in complex diseases

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Published inSleep (New York, N.Y.) Vol. 47; no. 7; p. 1
Main Author Zhao, Chen
Format Journal Article
LanguageEnglish
Published US Oxford University Press 11.07.2024
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Author Zhao, Chen
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CitedBy_id crossref_primary_10_1186_s40246_024_00642_4
Cites_doi 10.1038/nrg2149
10.1007/s00439-013-1331-2
10.1038/s41467-019-08917-4
10.1038/s41588-018-0333-3
10.1038/nrg3118
10.1038/nrg3461
10.1126/science.aaz1776
10.1038/s41594-022-00896-3
10.3389/fgene.2020.00424
10.1038/s41576-018-0016-z
10.1126/science.abo1131
10.1126/sciadv.abq0844
10.1038/s41576-019-0128-0
10.1126/science.abi8207
10.1093/sleep/zsae085
10.1038/s41582-020-0373-z
10.1038/nature13127
ContentType Journal Article
Copyright The Author(s) 2024. Published by Oxford University Press on behalf of Sleep Research Society. All rights reserved. For commercial re-use, please contact reprints@oup.com for reprints and translation rights for reprints. All other permissions can be obtained through our RightsLink service via the Permissions link on the article page on our site—for further information please contact journals.permissions@oup.com. 2024
COPYRIGHT 2024 Oxford University Press
The Author(s) 2024. Published by Oxford University Press on behalf of Sleep Research Society. All rights reserved. For commercial re-use, please contact reprints@oup.com for reprints and translation rights for reprints. All other permissions can be obtained through our RightsLink service via the Permissions link on the article page on our site—for further information please contact journals.permissions@oup.com.
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– notice: The Author(s) 2024. Published by Oxford University Press on behalf of Sleep Research Society. All rights reserved. For commercial re-use, please contact reprints@oup.com for reprints and translation rights for reprints. All other permissions can be obtained through our RightsLink service via the Permissions link on the article page on our site—for further information please contact journals.permissions@oup.com.
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References Fiziev (2024071105520544200_CIT0005) 2023; 380
Solovieff (2024071105520544200_CIT0016) 2013; 14
Cano-Gamez (2024071105520544200_CIT0018) 2020; 11
Gibson (2024071105520544200_CIT0001) 2012; 13
Beckmann (2024071105520544200_CIT0006) 2007; 8
MacArthur (2024071105520544200_CIT0009) 2014; 508
Zaugg (2024071105520544200_CIT0017) 2022; 29
Dashti (2024071105520544200_CIT0014) 2019; 10
Cooper (2024071105520544200_CIT0004) 2013; 132
Schoenfelder (2024071105520544200_CIT0012) 2019; 20
Aguet (2024071105520544200_CIT0013) 2020; 369
Kampmann (2024071105520544200_CIT0008) 2020; 16
Sonti (2024071105520544200_CIT0010) 2024; 47
Schaid (2024071105520544200_CIT0007) 2018; 19
Lewontin (2024071105520544200_CIT0003) 1974; 26
Palermo (2024071105520544200_CIT0011) 2023; 9
Jansen (2024071105520544200_CIT0015) 2019; 51
Lappalainen (2024071105520544200_CIT0002) 2021; 373
38571402 - Sleep. 2024 Jul 11;47(7):zsae085. doi: 10.1093/sleep/zsae085.
References_xml – volume: 8
  start-page: 639
  issue: 8
  year: 2007
  ident: 2024071105520544200_CIT0006
  article-title: Copy number variants and genetic traits: closer to the resolution of phenotypic to genotypic variability
  publication-title: Nat Rev Genet.
  doi: 10.1038/nrg2149
– volume: 132
  start-page: 1077
  issue: 10
  year: 2013
  ident: 2024071105520544200_CIT0004
  article-title: Where genotype is not predictive of phenotype: towards an understanding of the molecular basis of reduced penetrance in human inherited disease
  publication-title: Hum Genet.
  doi: 10.1007/s00439-013-1331-2
– volume: 10
  start-page: 1100
  issue: 1
  year: 2019
  ident: 2024071105520544200_CIT0014
  article-title: Genome-wide association study identifies genetic loci for self-reported habitual sleep duration supported by accelerometer-derived estimates
  publication-title: Nat Commun.
  doi: 10.1038/s41467-019-08917-4
– volume: 51
  start-page: 394
  issue: 3
  year: 2019
  ident: 2024071105520544200_CIT0015
  article-title: Genome-wide analysis of insomnia in 1,331,010 individuals identifies new risk loci and functional pathways
  publication-title: Nat Genet.
  doi: 10.1038/s41588-018-0333-3
– volume: 13
  start-page: 135
  issue: 2
  year: 2012
  ident: 2024071105520544200_CIT0001
  article-title: Rare and common variants: twenty arguments
  publication-title: Nat Rev Genet.
  doi: 10.1038/nrg3118
– volume: 14
  start-page: 483
  issue: 7
  year: 2013
  ident: 2024071105520544200_CIT0016
  article-title: Pleiotropy in complex traits: challenges and strategies
  publication-title: Nat Rev Genet.
  doi: 10.1038/nrg3461
– volume: 26
  start-page: 400
  issue: 3
  year: 1974
  ident: 2024071105520544200_CIT0003
  article-title: Annotation: the analysis of variance and the analysis of causes
  publication-title: Am J Hum Genet.
– volume: 369
  start-page: 1318
  issue: 6509
  year: 2020
  ident: 2024071105520544200_CIT0013
  article-title: The GTEx Consortium atlas of genetic regulatory effects across human tissues
  publication-title: Science
  doi: 10.1126/science.aaz1776
– volume: 29
  start-page: 1148
  issue: 12
  year: 2022
  ident: 2024071105520544200_CIT0017
  article-title: Current challenges in understanding the role of enhancers in disease
  publication-title: Nat Struct Mol Biol.
  doi: 10.1038/s41594-022-00896-3
– volume: 11
  start-page: 424
  year: 2020
  ident: 2024071105520544200_CIT0018
  article-title: From GWAS to function: using functional genomics to identify the mechanisms underlying complex diseases
  publication-title: Front Genet.
  doi: 10.3389/fgene.2020.00424
– volume: 19
  start-page: 491
  issue: 8
  year: 2018
  ident: 2024071105520544200_CIT0007
  article-title: From genome-wide associations to candidate causal variants by statistical fine-mapping
  publication-title: Nat Rev Genet.
  doi: 10.1038/s41576-018-0016-z
– volume: 380
  start-page: eabo1131
  issue: 6648
  year: 2023
  ident: 2024071105520544200_CIT0005
  article-title: Rare penetrant mutations confer severe risk of common diseases
  publication-title: Science.
  doi: 10.1126/science.abo1131
– volume: 9
  start-page: eabq0844
  issue: 1
  year: 2023
  ident: 2024071105520544200_CIT0011
  article-title: Variant-to-gene mapping followed by cross-species genetic screening identifies GPI-anchor biosynthesis as a regulator of sleep
  publication-title: Sci Adv.
  doi: 10.1126/sciadv.abq0844
– volume: 20
  start-page: 437
  issue: 8
  year: 2019
  ident: 2024071105520544200_CIT0012
  article-title: Long-range enhancer-promoter contacts in gene expression control
  publication-title: Nat Rev Genet.
  doi: 10.1038/s41576-019-0128-0
– volume: 373
  start-page: 1464
  issue: 6562
  year: 2021
  ident: 2024071105520544200_CIT0002
  article-title: From variant to function in human disease genetics
  publication-title: Science
  doi: 10.1126/science.abi8207
– volume: 47
  issue: 7
  year: 2024
  ident: 2024071105520544200_CIT0010
  article-title: Perturbation of the insomnia WDR90 GWAS locus pinpoints rs3752495 as a causal variant influencing distal expression of neighboring gene, PIG-Q
  publication-title: Sleep
  doi: 10.1093/sleep/zsae085
– volume: 16
  start-page: 465
  issue: 9
  year: 2020
  ident: 2024071105520544200_CIT0008
  article-title: CRISPR-based functional genomics for neurological disease
  publication-title: Nat Rev Neurol.
  doi: 10.1038/s41582-020-0373-z
– volume: 508
  start-page: 469
  issue: 7497
  year: 2014
  ident: 2024071105520544200_CIT0009
  article-title: Guidelines for investigating causality of sequence variants in human disease
  publication-title: Nature.
  doi: 10.1038/nature13127
– reference: 38571402 - Sleep. 2024 Jul 11;47(7):zsae085. doi: 10.1093/sleep/zsae085.
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SubjectTerms Causality
Diseases
Genetic aspects
Genetic Predisposition to Disease - genetics
Genetic research
Genome-Wide Association Study
Genomics
Germany
Humans
Single nucleotide polymorphisms
Title Genome wide association study gateway—transitioning variants from association to causality in complex diseases
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