Advances in identifying coding variants of common complex diseases
نویسندگان
چکیده
منابع مشابه
Regulatory variants explain much more heritability than coding variants across 11 common diseases
Alexander Gusev, S Hong Lee, Benjamin M Neale, Gosia Trynka, Bjarni J Vilhjálmsson, Hilary Finucane, Han Xu, Chongzhi Zang, Stephan Ripke, Eli Stahl, Schizophrenia Working Group of the Psychiatric Genomics Consortium, SWE-SCZ Consortium, Anna K. Kähler, Christina M. Hultman, Shaun M. Purcell, Steven A. McCarroll, Mark Daly, Bogdan Pasaniuc Patrick F. Sullivan, Naomi R. Wray, Soumya Raychaudhuri...
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Genome-wide association (GWA) studies typically lack power to detect genotypes significantly associated with complex diseases, where different causal mutations of small effect may be present across cases. A common, tractable approach for identifying genomic elements associated with complex traits is to evaluate combinations of variants in known pathways or gene sets with shared biological funct...
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Novel, comprehensive approaches for biomarker discovery and validation are urgently needed. One particular area of methodologic need is for discovery of novel genetic biomarkers in complex diseases and traits. Here, we review recent successes in the use of genome wide association (GWA) approaches to identify genetic biomarkers in common human diseases and traits. Such studies are yielding initi...
متن کاملRare and low-frequency variants in human common diseases and other complex traits.
In humans, most of the genetic variation is rare and often population-specific. Whereas the role of rare genetic variants in familial monogenic diseases is firmly established, we are only now starting to explore the contribution of this class of genetic variation to human common diseases and other complex traits. Such large-scale experiments are possible due to the development of next-generatio...
متن کاملSBERIA: set-based gene-environment interaction test for rare and common variants in complex diseases.
Identification of gene-environment interaction (G × E) is important in understanding the etiology of complex diseases. However, partially due to the lack of power, there have been very few replicated G × E findings compared to the success in marginal association studies. The existing G × E testing methods mainly focus on improving the power for individual markers. In this paper, we took a diffe...
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ژورنال
عنوان ژورنال: Journal of Bio-X Research
سال: 2019
ISSN: 2096-5672,2577-3585
DOI: 10.1097/jbr.0000000000000046