Now showing items 61-70 of 133
A comparison of approaches to account for uncertainty in analysis of imputed genotypes
(Wiley Subscription Services, Inc., A Wiley Company, 2011-02)
The availability of extensively genotyped reference samples, such as “The HapMap” and 1,000 Genomes Project reference panels, together with advances in statistical methodology, have allowed for the imputation of genotypes ...
Mitochondrial polymorphisms and susceptibility to type 2 diabetes-related traits in Finns
(Springer-Verlag, 2005-11)
Mitochondria play an integral role in ATP production in cells and are involved in glucose metabolism and insulin secretion, suggesting that variants in the mitochondrial genome may contribute to diabetes susceptibility. ...
A 5-base insertion in the γC-crystallin gene is associated with autosomal dominant variable zonular pulverulent cataract
(Springer-Verlag, 2000-05)
A seven-generation family with 30 members affected by highly variable autosomal dominant zonular pulverulent cataracts has been previously described. We have localized the cataracts to a 19-cM interval on chromosome 2q33-q35 ...
Association Between Absolute Neutrophil Count and Variation at TCIRG1: The NHLBI Exome Sequencing Project
(The McGraw‐Hill CompaniesWiley Periodicals, Inc., 2016-09)
Neutrophils are a key component of innate immunity. Individuals with low neutrophil count are susceptible to frequent infections. Linkage and association between congenital neutropenia and a single rare missense variant ...
Enhanced plasmid DNA delivery using anionic LPDII by listeriolysin O incorporation
(John Wiley & Sons, Ltd., 2005-08)
Background A major obstacle to achieving effective DNA-based therapeutics is efficient delivery of the DNA to its site of action in the cell. Upon internalization by endocytosis, the endosomal membrane represents a critical ...
Functional characterization of the new human GABA A receptor mutation β3(R192H)
(Springer-Verlag, 2002-08)
We screened 124 individuals for single nucleotide polymorphisms of the α1, β3 and γ2 genes of the GABA A receptor in the regions corresponding to the ligand-binding domains on the protein level. In a patient with chronic ...
Machine learning in genome-wide association studies
(Wiley Subscription Services, Inc., A Wiley Company, 2009)
Recently, genome-wide association studies have substantially expanded our knowledge about genetic variants that influence the susceptibility to complex diseases. Although standard statistical tests for each single-nucleotide ...
A Weighted U ‐Statistic for Genetic Association Analyses of Sequencing Data
(Wiley‐Interscience, 2014-12)
With advancements in next‐generation sequencing technology, a massive amount of sequencing data is generated, which offers a great opportunity to comprehensively investigate the role of rare variants in the genetic etiology ...
gsSKAT: Rapid gene set analysis and multiple testing correction for rareâ variant association studies using weighted linear kernels
(Wiley Periodicals, Inc.L. Erlbaum Associates, 2017-05)
Nextâ generation sequencing technologies have afforded unprecedented characterization of lowâ frequency and rare genetic variation. Due to low power for singleâ variant testing, aggregative methods are commonly used to ...
Robust and Powerful Affected Sibpair Test for Rare Variant Association
(Wiley Periodicals, Inc., 2015-07)
Advances in DNA sequencing technology facilitate investigating the impact of rare variants on complex diseases. However, using a conventional case‐control design, large samples are needed to capture enough rare variants ...