Journal
BEST PRACTICE & RESEARCH IN CLINICAL RHEUMATOLOGY
Volume 28, Issue 2, Pages 175-189Publisher
ELSEVIER SCI LTD
DOI: 10.1016/j.berh.2014.05.001
Keywords
Pediatric rheumatology; Somatic mosaicism; Genome-wide association study; Targeted deep resequencing; miRNA; lncRNA
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Funding
- Intramural Research Program of the National Institute of Arthritis and Musculoskeletal and Skin Diseases of the National Institutes of Health
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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.
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