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3
Molecular basis of a linkage peak: exome sequencing and family-based analysis identify a rare genetic variant in the ADIPOQ gene in the IRAS Family Study.连锁峰的分子基础：外显子组测序和基于家系的分析在 IRAS 家族研究中鉴定出 ADIPOQ 基因中的一个罕见遗传变异。
Hum Mol Genet. 2010 Oct 15;19(20):4112-20. doi: 10.1093/hmg/ddq327. Epub 2010 Aug 5.
4
Biological, clinical and population relevance of 95 loci for blood lipids.95 个与血脂相关的生物学、临床和人群相关性位点。
Nature. 2010 Aug 5;466(7307):707-13. doi: 10.1038/nature09270.
5
Exome sequencing of a multigenerational human pedigree.外显子组测序一个多代人家系。
PLoS One. 2009 Dec 14;4(12):e8232. doi: 10.1371/journal.pone.0008232.
6
Forty-three loci associated with plasma lipoprotein size, concentration, and cholesterol content in genome-wide analysis.全基因组分析发现与血浆脂蛋白大小、浓度和胆固醇含量相关的 43 个位点。
PLoS Genet. 2009 Nov;5(11):e1000730. doi: 10.1371/journal.pgen.1000730. Epub 2009 Nov 20.
7
Exome sequencing identifies the cause of a mendelian disorder.外显子组测序确定了一种孟德尔疾病的病因。
Nat Genet. 2010 Jan;42(1):30-5. doi: 10.1038/ng.499. Epub 2009 Nov 13.
8
Genetic diagnosis by whole exome capture and massively parallel DNA sequencing.全外显子捕获和大规模平行 DNA 测序的基因诊断。
Proc Natl Acad Sci U S A. 2009 Nov 10;106(45):19096-101. doi: 10.1073/pnas.0910672106. Epub 2009 Oct 27.
9
Genetic determinants of circulating sphingolipid concentrations in European populations.欧洲人群循环鞘脂浓度的遗传决定因素。
PLoS Genet. 2009 Oct;5(10):e1000672. doi: 10.1371/journal.pgen.1000672. Epub 2009 Oct 2.
10
Targeted capture and massively parallel sequencing of 12 human exomes.12个人类外显子组的靶向捕获和大规模平行测序
Nature. 2009 Sep 10;461(7261):272-6. doi: 10.1038/nature08250. Epub 2009 Aug 16.

发现脂质相关基因的新方法。

New approaches for the discovery of lipid‑related genes.

作者信息

Curran Joanne E, Meikle Peter J, Blangero John

机构信息

Department of Genetics, Texas Biomedical Research Institute, 7620 NW Loop, San Antonio, TX 78227, USA.

Metabolomics Laboratory, Baker IDI, Heart & Diabetes Institute, 75 Commercial Road, Melbourne, VIC 3004, Australia.

出版信息

Clin Lipidol. 2011;6(5):495-500. Epub 2017 Jan 18.

PMID:32983264
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC7518394/
Abstract

"New high-dimensional canonical lipid phenotyping methods … are coming together to suggest a new paradigm for lipid gene discovery that is likely to be more successful than prior efforts."

摘要

新的高维典型脂质表型分析方法……正汇聚在一起，为脂质基因发现提出一种新的范式，这种范式可能比之前的努力更成功。