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Genomewide association studies and common disease--realizing clinical utility.

作者信息

Fugger Lars, McVean Gil, Bell John I

机构信息

Weatherall Institute of Medicine, University of Oxford, Oxford, United Kingdom.

出版信息

N Engl J Med. 2012 Dec 20;367(25):2370-1. doi: 10.1056/NEJMp1212285.

DOI:10.1056/NEJMp1212285

PMID:23252523

Abstract

摘要

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Genomewide association studies and common disease--realizing clinical utility.

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Genomewide association studies and common disease--realizing clinical utility.

作者信息

Fugger Lars, McVean Gil, Bell John I

机构信息

Weatherall Institute of Medicine, University of Oxford, Oxford, United Kingdom.

出版信息

N Engl J Med. 2012 Dec 20;367(25):2370-1. doi: 10.1056/NEJMp1212285.

DOI:10.1056/NEJMp1212285

PMID:23252523

Abstract

摘要

相似文献

Genomewide association studies and common disease--realizing clinical utility.

N Engl J Med. 2012 Dec 20;367(25):2370-1. doi: 10.1056/NEJMp1212285.

What is complex about complex disorders?

Genome Biol. 2012 Jan 23;13(1):237. doi: 10.1186/gb-2012-13-1-237.

Genome-wide association studies (GWAS) in complex diseases: advantages and limitations.

Reumatol Clin. 2012 Mar-Apr;8(2):56-7. doi: 10.1016/j.reuma.2011.07.005. Epub 2011 Nov 15.

[Desperately seeking heritability].

Med Sci (Paris). 2010 May;26(5):541-3. doi: 10.1051/medsci/2010265541.

[The decline of genome-wide association studies].

Med Sci (Paris). 2009 May;25(5):537-9. doi: 10.1051/medsci/2009255537.

Personalized medicine and the genotype-phenotype dilemma.

J Interv Card Electrophysiol. 2011 Jun;31(1):17-23. doi: 10.1007/s10840-011-9561-5. Epub 2011 Apr 8.

Preface. Use of genome-wide oligonucleotide- or SNP-array platforms has widened the spectrum of detectable human genomic variation.

Cytogenet Genome Res. 2011;135(3-4):171-3. doi: 10.1159/000334062. Epub 2011 Dec 3.

Genome-wide association studies and human disease: from trickle to flood.

JAMA. 2009 Nov 11;302(18):2028-9. doi: 10.1001/jama.2009.1643.

Family-based genome-wide association studies.

Pharmacogenomics. 2009 Feb;10(2):181-90. doi: 10.2217/14622416.10.2.181.

What genome-wide association studies can do for medicine.

N Engl J Med. 2007 Mar 15;356(11):1094-7. doi: 10.1056/NEJMp068126.

引用本文的文献

Single nucleotide polymorphisms rs148582811 regulates its host gene expression to affect nicotine-associated hippocampus-dependent memory.

iScience. 2023 Oct 28;26(12):108335. doi: 10.1016/j.isci.2023.108335. eCollection 2023 Dec 15.

Differential gene expression orchestrated by transcription factors in osteoporosis: bioinformatics analysis of associated polymorphism elaborating functional relationships.

Aging (Albany NY). 2022 Jun 21;14(12):5163-5176. doi: 10.18632/aging.204136.

Puberty Status Modifies the Effects of Genetic Variants, Lifestyle Factors and Their Interactions on Adiponectin: The BCAMS Study.

Front Endocrinol (Lausanne). 2021 Dec 24;12:737459. doi: 10.3389/fendo.2021.737459. eCollection 2021.

Front Endocrinol (Lausanne). 2021 Nov 25;12:730686. doi: 10.3389/fendo.2021.730686. eCollection 2021.

Investigation of the variants at the binding site of inflammatory transcription factor NF-κB in patients with end-stage renal disease.

BMC Nephrol. 2019 Aug 5;20(1):300. doi: 10.1186/s12882-019-1471-2.

Post-mortem multiple sclerosis lesion pathology is influenced by single nucleotide polymorphisms.

Brain Pathol. 2020 Jan;30(1):106-119. doi: 10.1111/bpa.12760. Epub 2019 Jul 23.

J Cancer Res Clin Oncol. 2017 Dec;143(12):2481-2492. doi: 10.1007/s00432-017-2505-4. Epub 2017 Aug 28.

Multiple functional variants in long-range enhancer elements contribute to the risk of SNP rs965513 in thyroid cancer.

Proc Natl Acad Sci U S A. 2015 May 12;112(19):6128-33. doi: 10.1073/pnas.1506255112. Epub 2015 Apr 27.

Approaches for establishing the function of regulatory genetic variants involved in disease.

Genome Med. 2014 Oct 31;6(10):92. doi: 10.1186/s13073-014-0092-4. eCollection 2014.

Functional variants at the 21q22.3 locus involved in breast cancer progression identified by screening of genome-wide estrogen response elements.

Breast Cancer Res. 2014 Oct 9;16(5):455. doi: 10.1186/s13058-014-0455-1.