Genetics, genomics, and their relevance to pathology and therapy

被引：27

作者：

Ombrello, Michael J. ^{[1
]}

Sikora, Keith A. ^{[1
]}

Kastner, Daniel L. ^{[2
]}

机构：

[1] NIAMSD, NIH, DHHS, Bethesda, MD 20892 USA

[2] NHGRI, NIH, DHHS, Bethesda, MD 20892 USA

来源：

BEST PRACTICE & RESEARCH IN CLINICAL RHEUMATOLOGY | 2014年 / 28卷 / 02期

基金：

美国国家卫生研究院;

关键词：

Pediatric rheumatology; Somatic mosaicism; Genome-wide association study; Targeted deep resequencing; miRNA; lncRNA; WIDE ASSOCIATION ANALYSIS; LARGE NONCODING RNAS; RHEUMATOID-ARTHRITIS; SUSCEPTIBILITY LOCI; RARE VARIANTS; LOW-FREQUENCY; AUTOINFLAMMATORY DISEASE; GENOTYPE IMPUTATION; NLRP3; INFLAMMASOME; INTERFERON-GAMMA;

D O I：

10.1016/j.berh.2014.05.001

中图分类号：

R5 [内科学];

学科分类号：

100201 [内科学];

摘要：

Genetic and genomic investigations are a starting point for the study of human disease, seeking to discover causative variants relevant to disease pathophysiology. Over the past 5 years, massively parallel, high-throughput, next-generation sequencing techniques have revolutionized genetics and genomics, identifying the causes of many Mendelian diseases. The application of whole-genome sequencing and whole-exome sequencing to large populations has produced several publicly available sequence datasets that have revealed the scope of human genetic variation and have contributed to important methodological advances in the study of both common and rare genetic variants in genetically complex diseases. The importance of noncoding genetic variation has been highlighted by the Encyclopedia of DNA Elements (ENCODE) project and National Institutes of Health (NIH) Roadmap Epigenomics Program and integrated analyses of these datasets, together with disease-specific datasets, will provide an important and powerful tool for determining the mechanisms through which disease-associated, noncoding variation influences disease risk. Published by Elsevier Ltd.

引用

页码：175 / 189

页数：15

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