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postGWAS: A web server for deciphering the causality post the genome-wide association studies.
Comput Biol Med
March 2024
School of Computer Science and Engineering, Xi'an University of Technology, Xi'an, 710048, China. Electronic address:
While genome-wide association studies (GWAS) have unequivocally identified vast disease susceptibility variants, a majority of them are situated in non-coding regions and are in high linkage disequilibrium (LD). To pave the way of translating GWAS signals to clinical drug targets, it is essential to identify the underlying causal variants and further causal genes. To this end, a myriad of post-GWAS methods have been devised, each grounded in distinct principles including fine-mapping, co-localization, and transcriptome-wide association study (TWAS) techniques.
View Article and Find Full Text PDFPrecise and Cost-Effective Nanopore Sequencing for Post-GWAS Fine-Mapping and Causal Variant Identification.
iScience
April 2020
Department of Pharmacology, Northwestern University Feinberg School of Medicine, Chicago, IL 60611, USA; Center for Pharmacogenomics, Northwestern University Feinberg School of Medicine, Chicago, IL 60611, USA. Electronic address:
Fine-mapping of interesting loci discovered by genome-wide association study (GWAS) is mandatory to pinpoint causal variants. Traditionally, this fine-mapping is completed through increasing the genotyping density at candidate loci, for which imputation is the current standard approach. Although imputation is a useful technique, it has a number of limitations that impede accuracy.
View Article and Find Full Text PDFThe Post-GWAS Era: From Association to Function.
Am J Hum Genet
May 2018
Department of Neurology, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA. Electronic address:
During the past 12 years, genome-wide association studies (GWASs) have uncovered thousands of genetic variants that influence risk for complex human traits and diseases. Yet functional studies aimed at delineating the causal genetic variants and biological mechanisms underlying the observed statistical associations with disease risk have lagged. In this review, we highlight key advances in the field of functional genomics that may facilitate the derivation of biological meaning post-GWAS.
View Article and Find Full Text PDFPrinciples for the post-GWAS functional characterization of cancer risk loci.
Nat Genet
June 2011
Department of Medical Oncology, Dana-Farber Cancer Institute, Boston, Massachusetts, USA.
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