Suppr超能文献

人类表型多样性的遗传决定因素。

Genetic determinants of phenotypic diversity in humans.

机构信息

Scripps Genomic Medicine, The Scripps Research Institute, North Torrey Pines Road MEM 275, La Jolla, CA 92037, USA.

出版信息

Genome Biol. 2008 Apr 24;9(4):215. doi: 10.1186/gb-2008-9-4-215.

Abstract

New technologies for rapidly assaying DNA sequences have revealed that the degree and nature of human genetic variation is far more complex then previously realized. These same technologies have also resulted in the identification of common genetic variants associated with more than 30 human diseases and traits.

摘要

新技术可以快速分析 DNA 序列,揭示出人类遗传变异的程度和性质比以前认识到的要复杂得多。这些相同的技术还导致了与 30 多种人类疾病和特征相关的常见遗传变异的鉴定。

相似文献

1
Genetic determinants of phenotypic diversity in humans.
Genome Biol. 2008 Apr 24;9(4):215. doi: 10.1186/gb-2008-9-4-215.
3
Molecular genetic studies of complex phenotypes.
Transl Res. 2012 Feb;159(2):64-79. doi: 10.1016/j.trsl.2011.08.001. Epub 2011 Aug 31.
4
Phenotypic diversity and epigenomic variation - The utility of mass spectrometric analysis of DNA methylation.
J Proteomics. 2012 Jun 27;75(12):3400-9. doi: 10.1016/j.jprot.2012.01.036. Epub 2012 Feb 14.
5
Newest Methods for Detecting Structural Variations.
Trends Biotechnol. 2019 Sep;37(9):973-982. doi: 10.1016/j.tibtech.2019.02.003. Epub 2019 Mar 19.
6
Structural variation analysis with strobe reads.
Bioinformatics. 2010 May 15;26(10):1291-8. doi: 10.1093/bioinformatics/btq153. Epub 2010 Apr 8.
7
Viral quasispecies inference from 454 pyrosequencing.
BMC Bioinformatics. 2013 Dec 5;14:355. doi: 10.1186/1471-2105-14-355.
8
Dissecting the genetic determinants of hemostasis and thrombosis.
Curr Opin Hematol. 2015 Sep;22(5):428-36. doi: 10.1097/MOH.0000000000000165.
9
Direct analysis of single-nucleotide polymorphism on double-stranded DNA by pyrosequencing.
Biotechnol Appl Biochem. 2000 Apr;31(2):107-12. doi: 10.1042/ba19990104.
10
Uncovering the roles of rare variants in common disease through whole-genome sequencing.
Nat Rev Genet. 2010 Jun;11(6):415-25. doi: 10.1038/nrg2779.

引用本文的文献

1
Semicircular canals shed light on bottleneck events in the evolution of the Neanderthal clade.
Nat Commun. 2025 Feb 20;16(1):972. doi: 10.1038/s41467-025-56155-8.
4
Breed-Driven Microbiome Heterogeneity Regulates Intestinal Stem Cell Proliferation via Lactobacillus-Lactate-GPR81 Signaling.
Adv Sci (Weinh). 2024 Sep;11(33):e2400058. doi: 10.1002/advs.202400058. Epub 2024 Jun 27.
7
3D genome organization links non-coding disease-associated variants to genes.
Front Cell Dev Biol. 2022 Oct 20;10:995388. doi: 10.3389/fcell.2022.995388. eCollection 2022.
9
Role of the Ubiquitin Proteasome System in the Regulation of Blood Pressure: A Review.
Int J Mol Sci. 2020 Jul 28;21(15):5358. doi: 10.3390/ijms21155358.
10
Copy Number Variation in Fungi and Its Implications for Wine Yeast Genetic Diversity and Adaptation.
Front Microbiol. 2018 Feb 22;9:288. doi: 10.3389/fmicb.2018.00288. eCollection 2018.

本文引用的文献

2
SLC2A9 influences uric acid concentrations with pronounced sex-specific effects.
Nat Genet. 2008 Apr;40(4):430-6. doi: 10.1038/ng.107. Epub 2008 Mar 9.
3
Common sequence variants on 2p15 and Xp11.22 confer susceptibility to prostate cancer.
Nat Genet. 2008 Mar;40(3):281-3. doi: 10.1038/ng.89. Epub 2008 Feb 10.
4
Multiple newly identified loci associated with prostate cancer susceptibility.
Nat Genet. 2008 Mar;40(3):316-21. doi: 10.1038/ng.90. Epub 2008 Feb 10.
5
Multiple loci identified in a genome-wide association study of prostate cancer.
Nat Genet. 2008 Mar;40(3):310-5. doi: 10.1038/ng.91. Epub 2008 Feb 10.
7
Functional variants in the B-cell gene BANK1 are associated with systemic lupus erythematosus.
Nat Genet. 2008 Feb;40(2):211-6. doi: 10.1038/ng.79. Epub 2008 Jan 20.
9
Association of systemic lupus erythematosus with C8orf13-BLK and ITGAM-ITGAX.
N Engl J Med. 2008 Feb 28;358(9):900-9. doi: 10.1056/NEJMoa0707865. Epub 2008 Jan 20.
10
Cumulative association of five genetic variants with prostate cancer.
N Engl J Med. 2008 Feb 28;358(9):910-9. doi: 10.1056/NEJMoa075819. Epub 2008 Jan 16.

文献AI研究员

20分钟写一篇综述,助力文献阅读效率提升50倍。

立即体验

用中文搜PubMed

大模型驱动的PubMed中文搜索引擎

马上搜索

文档翻译

学术文献翻译模型,支持多种主流文档格式。

立即体验