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Signatures of post-zygotic structural genetic aberrations in the cells of histologically normal breast tissue that can predispose to sporadic breast cancer.

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Genomic approaches for understanding the genetics of complex disease.

Content Provider	World Health Organization (WHO)-Global Index Medicus
Author	Lowe, William L. Reddy, Timothy E.
Description	Author Affiliation: Lowe WL ( Division of Endocrinology, Metabolism and Molecular Medicine, Department of Medicine, Northwestern University Feinberg School of Medicine, Chicago, Illinois 60611, USA); Reddy TE ( Department of Biostatistics and Bioinformatics, Duke University Medical School, Durham, North Carolina 27708, USA)
Abstract	There are thousands of known associations between genetic variants and complex human phenotypes, and the rate of novel discoveries is rapidly increasing. Translating those associations into knowledge of disease mechanisms remains a fundamental challenge because the associated variants are overwhelmingly in noncoding regions of the genome where we have few guiding principles to predict their function. Intersecting the compendium of identified genetic associations with maps of regulatory activity across the human genome has revealed that phenotype-associated variants are highly enriched in candidate regulatory elements. Allele-specific analyses of gene regulation can further prioritize variants that likely have a functional effect on disease mechanisms; and emerging high-throughput assays to quantify the activity of candidate regulatory elements are a promising next step in that direction. Together, these technologies have created the ability to systematically and empirically test hypotheses about the function of noncoding variants and haplotypes at the scale needed for comprehensive and systematic follow-up of genetic association studies. Major coordinated efforts to quantify regulatory mechanisms across genetically diverse populations in increasingly realistic cell models would be highly beneficial to realize that potential.
File Format	HTM / HTML
ISSN	10889051
e-ISSN	15495469
DOI	10.1101/gr.190603.115
Journal	Genome Research
Issue Number	10
Volume Number	25
Language	English
Publisher	Cold Spring Harbor Laboratory Press
Publisher Date	2015-10-01
Publisher Place	United States
Access Restriction	Open
Subject Keyword	Discipline Genetics Discipline Genomics Genetic Predisposition To Disease Genetic Variation Genomics Alleles Animals Gene Expression Gene Expression Regulation Genetic Association Studies Models, Genetic Phenotype Quantitative Trait Loci Regulatory Sequences, Nucleic Acid Sequence Analysis Research Support, N.i.h., Extramural
Content Type	Text
Resource Type	Article
Subject	Genetics Genetics (clinical)

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