ゲノムワイド関連解析
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^ “The future of genetic studies of complex human diseases”. Science 273 (5281): 1516?7. (September 1996). Bibcode: 1996Sci...273.1516R. doi:10.1126/science.273.5281.1516. PMID 8801636. 
^ “The uneasy ethical and legal underpinnings of large-scale genomic biobanks”. Annual Review of Genomics and Human Genetics 8: 343?64. (2007). doi:10.1146/annurev.genom.7.080505.115721. PMID 17550341. 
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^ a b c d “Basic statistical analysis in genetic case-control studies”. Nature Protocols 6 (2): 121?33. (February 2011). doi:10.1038/nprot.2010.182. PMC 3154648. PMID 21293453. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3154648/. 
^ “PLINK: a tool set for whole-genome association and population-based linkage analyses”. American Journal of Human Genetics 81 (3): 559?75. (September 2007). doi:10.1086/519795. PMC 1950838. PMID 17701901. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1950838/6 
^ “Genome-wide detection of intervals of genetic heterogeneity associated with complex traits”. Bioinformatics 31 (12): i240-9. (June 2015). doi:10.1093/bioinformatics/btv263. PMC 4559912. PMID 26072488. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4559912/. 
^ “MOBAS: identification of disease-associated protein subnetworks using modularity-based scoring”. EURASIP Journal on Bioinformatics & Systems Biology 2015 (1): 7. (December 2015). doi:10.1186/s13637-015-0025-6. PMC 5270451. PMID 28194175. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5270451/. 
^ “Assessing the Collective Disease Association of Multiple Genomic Loci”. Proceedings of the 6th ACM Conference on Bioinformatics, Computational Biology and Health Informatics. BCB '15. New York, NY, USA: ACM. (2015-01-01). pp. 376?385. doi:10.1145/2808719.2808758. ISBN 978-1-4503-3853-0 
^ “Genotype imputation for genome-wide association studies”. Nature Reviews Genetics 11 (7): 499?511. (July 2010). doi:10.1038/nrg2796. PMID 20517342. 
^ “Genotype imputation with thousands of genomes”. G3 1 (6): 457?70. (November 2011). doi:10.1534/g3.111.001198. PMC 3276165. PMID 22384356. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3276165/. 
^ “A unified approach to genotype imputation and haplotype-phase inference for large data sets of trios and unrelated individuals”. American Journal of Human Genetics 84 (2): 210?23. (February 2009). doi:10.1016/j.ajhg.2009.01.005. PMC 2668004. PMID 19200528. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2668004/. 
^ “MaCH: using sequence and genotype data to estimate haplotypes and unobserved genotypes”. Genetic Epidemiology 34 (8): 816?34. (December 2010). doi:10.1002/gepi.20533. PMC 3175618. PMID 21058334. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3175618/. 
^ “Genes mirror geography within Europe”. Nature 456 (7218): 98?101. (November 2008). Bibcode: 2008Natur.456...98N. doi:10.1038/nature07331. PMC 2735096. PMID 18758442. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2735096/. 
^ “Genes, behavior, and behavior genetics”. Wiley Interdisciplinary Reviews. Cognitive Science 8 (1-2): e1405. (January 2017). doi:10.1002/wcs.1405. PMID 27906529. 
^ “A novel computational biostatistics approach implies impaired dephosphorylation of growth factor receptors as associated with severity of autism”. Translational Psychiatry 4 (1): e354. (January 2014). doi:10.1038/tp.2013.124. PMC 3905234. PMID 24473445. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3905234/. 
^ “Guidelines for genome-wide association studies”. PLOS Genetics 8 (7): e1002812. (July 2012). doi:10.1371/journal.pgen.1002812. PMC 3390399. PMID 22792080. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3390399/. 
^ Smith SM, Douaud G, Chen W, Hanayik T, Alfaro-Almagro F, Sharp K, Elliott LT (2021). “An expanded set of genome-wide association studies of brain imaging phenotypes in UK Biobank.”. Nat Neurosci. doi:10.1038/s41593-021-00826-4. PMID 33875891. https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=33875891. 
^ “Fine mapping of five loci associated with low-density lipoprotein cholesterol detects variants that double the explained heritability”. PLOS Genetics 7 (7): e1002198. (July 2011). doi:10.1371/journal.pgen.1002198. PMC 3145627. PMID 21829380. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3145627/6 
^ “Potential etiologic and functional implications of genome-wide association loci for human diseases and traits”. Proceedings of the National Academy of Sciences of the United States of America 106 (23): 9362?7. (June 2009). Bibcode: 2009PNAS..106.9362H. doi:10.1073/pnas.0903103106. PMC 2687147. PMID 19474294. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2687147/. 
^ “An open access database of genome-wide association results”. BMC Medical Genetics 10: 6. (January 2009). doi:10.1186/1471-2350-10-6. PMC 2639349. PMID 19161620. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2639349/. 
^ “Complement factor H variant increases the risk of age-related macular degeneration”. Science 308 (5720): 419?21. (April 2005). Bibcode: 2005Sci...308..419H. doi:10.1126/science.1110359. PMID 15761120. 
^ “Design and development of TT30, a novel C3d-targeted C3/C5 convertase inhibitor for treatment of human complement alternative pathway-mediated diseases”. Blood 118 (17): 4705?13. (October 2011). doi:10.1182/blood-2011-06-359646. PMC 3208285. PMID 21860027. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3208285/. 
^ "Largest ever study of genetics of common diseases published today" (Press release). Wellcome Trust Case Control Consortium. 6 June 2007. 2008年6月19日閲覧。
^ “Validating, augmenting and refining genome-wide association signals”. Nature Reviews Genetics 10 (5): 318?29. (May 2009). doi:10.1038/nrg2544. PMC 7877552. PMID 19373277. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7877552/. 
^“Gene discovery and polygenic prediction from a genome-wide association study of educational attainment in 1.1 million individuals”. Nature Genetics 50 (8): 1112?1121. (July 2018). doi:10.1038/s41588-018-0147-3. PMC 6393768. PMID 30038396. ⇒http://man.ac.uk/C0BbE7
^ Genome-wide Analysis of Insomnia (N=1,331,010) Identifies Novel Loci and Functional Pathways. (January 2018). doi:10.1101/2149736 
^ “C-reactive protein and coronary disease: is there a causal link?”. Circulation 120 (21): 2036?9. (November 2009). doi:10.1161/CIRCULATIONAHA.109.907212. PMID 19901186. 
^ “Case-control association mapping by proxy using family history of disease”. Nature Genetics 49 (3): 325?331. (March 2017). doi:10.1038/ng.3766. PMID 28092683. 
^ “The pursuit of genome-wide association studies: where are we now?”. Journal of Human Genetics 55 (4): 195?206. (April 2010). doi:10.1038/jhg.2010.19. PMID 20300123. 
^ a b “Personal genomes: The case of the missing heritability”. Nature 456 (7218): 18?21. (November 2008). doi:10.1038/456018a. PMID 18987709. 

外部リンク

omicX上の遺伝子型-表現型相互作用ソフトウェアツールおよびデータベース

ゲノムワイド関連研究の分析のための統計的方法[ビデオ講義シリーズ]

全ゲノム関連研究?国立ヒトゲノム研究所による

GWAS Central ?要約レベルの遺伝的関連の調査結果の中央データベース

Barrett (2010年7月18日). “ ⇒How to read a genome-wide association study”. Genomes Unzipped. 2021年8月4日閲覧。

ゲノムワイド関連研究のコンソーシアム(GWAS) ? Bennett SN、Caporaso、NEなどによる。

PLINK ?全ゲノム関連解析ツールセット

ENCODEスレッドエクスプローラーバリエーションの理解に対する機能情報の影響。ネイチャー(ジャーナル)










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ゲノムワイド関連解析

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