Now showing items 11-20 of 338
The Role of Environmental Heterogeneity in Meta‐Analysis of Gene–Environment Interactions With Quantitative Traits
(Wiley, 2014-07)
With challenges in data harmonization and environmental heterogeneity across various data sources, meta‐analysis of gene–environment interaction studies can often involve subtle statistical issues. In this paper, we study ...
Copy number variant discrepancy resolution using the ClinGen dosage sensitivity map results in updated clinical interpretations in ClinVar
(Wiley Periodicals, Inc., 2018-11)
Conflict resolution in genomic variant interpretation is a critical step toward improving patient care. Evaluating interpretation discrepancies in copy number variants (CNVs) typically involves assessing overlapping genomic ...
Erythropoietin mediated bone formation is regulated by mTOR signaling
(Wiley Subscription Services, Inc., A Wiley Company, 2012-01)
The role of erythropoietin (Epo) and Epo/Epo receptor (EpoR) signaling pathways for production of red blood cells are well established. However, little is known about Epo/EpoR signaling in non‐hematopoietic cells. Recently, ...
Biological Network Exploration with Cytoscape 3
(Association for the Advancement of Artificial IntelligenceWiley Periodicals, Inc., 2014-09)
Cytoscape is one of the most popular open‐source software tools for the visual exploration of biomedical networks composed of protein, gene, and other types of interactions. It offers researchers a versatile and interactive ...
Differences in fat and muscle mass associated with a functional human polymorphism in a post-transcriptional BMP2 gene regulatory element
(Wiley Subscription Services, Inc., A Wiley Company, 2009-08-15)
A classic morphogen, bone morphogenetic protein 2 (BMP2) regulates the differentiation of pluripotent mesenchymal cells. High BMP2 levels promote osteogenesis or chondrogenesis and low levels promote adipogenesis. BMP2 ...
DNA-Sequence Patenting: National Society of Genetic Counselors (NSGC) Position Paper
(Kluwer Academic Publishers-Plenum Publishers; National Society of Genetic Counselors, Inc. ; Springer Science+Business Media, 2002-08)
In November 2000, the Genetic Services Committee of the National Society of Genetic Counselors (NSGC) convened a working group to draft a position paper on patenting of DNA-sequences. The mandate of the group was to produce ...
Genome‐Wide Family‐Based Linkage Analysis of Exome Chip Variants and Cardiometabolic Risk
(Wiley Periodicals, Inc., 2014-04)
Linkage analysis of complex traits has had limited success in identifying trait‐influencing loci. Recently, coding variants have been implicated as the basis for some biomedical associations. We tested whether coding ...
The spectrum of WRN mutations in Werner syndrome patients Communicated by Mark Paalman This article is a US government work and, as such, is in the public domain in the United States of America.
(Wiley Subscription Services, Inc., A Wiley Company, 2006-06)
The International Registry of Werner syndrome ( www.wernersyndrome.org ) has been providing molecular diagnosis of the Werner syndrome (WS) for the past decade. The present communication summarizes, from among 99 WS subjects, ...
Methods for meta‐analysis of multiple traits using GWAS summary statistics
(Oxford University PressWiley Periodicals, Inc., 2018-03)
Genome‐wide association studies (GWAS) for complex diseases have focused primarily on single‐trait analyses for disease status and disease‐related quantitative traits. For example, GWAS on risk factors for coronary artery ...
Understanding the accuracy of statistical haplotype inference with sequence data of known phase
(Wiley Subscription Services, Inc., A Wiley Company, 2007-11)
Statistical methods for haplotype inference from multi-site genotypes of unrelated individuals have important application in association studies and population genetics. Understanding the factors that affect the accuracy ...