Now showing items 1-10 of 338
A Geometric Framework for Evaluating Rare Variant Tests of Association
(Wiley Periodicals, Inc., 2013-05)
The wave of next‐generation sequencing data has arrived. However, many questions still remain about how to best analyze sequence data, particularly the contribution of rare genetic variants to human disease. Numerous ...
Substrate interaction defects in histidylâ tRNA synthetase linked to dominant axonal peripheral neuropathy
(University of WashingtonWiley Periodicals, Inc., 2018-03)
Histidylâ tRNA synthetase (HARS) ligates histidine to cognate tRNA molecules, which is required for protein translation. Mutations in HARS cause the dominant axonal peripheral neuropathy Charcotâ Marieâ Tooth disease ...
Tests for gene-environment interaction from case-control data: a novel study of type I error, power and designs 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, 2008-11)
To evaluate the risk of a disease associated with the joint effects of genetic susceptibility and environmental exposures, epidemiologic researchers often test for non-multiplicative gene-environment effects from case-control ...
Interrupted aortic arch in a child with trisomy 5q31.1q35.1 due to a maternal (20;5) balanced insertion
(Wiley Subscription Services, Inc., A Wiley Company, 2003-01-30)
Complex congenital heart defects (CHD) are associated with a variety of single gene abnormalities and chromosomal rearrangements. Of the various forms of CHD, aortic arch interruption, a conotruncal heart defect, is ...
Using sex-averaged genetic maps in multipoint linkage analysis when identity-by-descent status is incompletely known
(Wiley Subscription Services, Inc., A Wiley Company, 2006-07)
The ratio of male and female genetic map distances varies dramatically across the human genome. Despite these sex differences in genetic map distances, most multipoint linkage analyses use sex-averaged genetic maps. We ...
Haplotype variation and genotype imputation in African populations
(Wiley Subscription Services, Inc., A Wiley Company, 2011-12)
Sub‐Saharan Africa has been identified as the part of the world with the greatest human genetic diversity. This high level of diversity causes difficulties for genome‐wide association (GWA) studies in African populations—for ...
Improving power of association tests using multiple sets of imputed genotypes from distributed reference panels
(Wiley Periodicals, Inc., 2017-12)
The accuracy of genotype imputation depends upon two factors: the sample size of the reference panel and the genetic similarity between the reference panel and the target samples. When multiple reference panels are not ...
Effects of hydroxyurea on CNV induction in the mouse germline
(John Wiley & Sons, Inc., 2018-10)
Rareâ variant association tests in longitudinal studies, with an application to the Multiâ Ethnic Study of Atherosclerosis (MESA)
(Wiley Periodicals, Inc.Springer New York, 2017-12)
Over the past few years, an increasing number of studies have identified rare variants that contribute to trait heritability. Due to the extreme rarity of some individual variants, geneâ based association tests have been ...
Use of inverse PCR to amplify and sequence breakpoints of HPRT deletion and translocation mutations
(John Wiley & Sons, Inc., 2002)
Deletion and translocation mutations have been shown to play a significant role in the genesis of many cancers. The hprt gene located at Xq26 is a frequently used marker gene in human mutational studies. In an attempt ...