Power Comparisons of Methods for Joint Association Analysis of Multiple Phenotypes
Conclusion: Our simulation results show that there is no single method with consistently good performance among all the scenarios. Each method has its own advantages and disadvantages.Hum Hered 2015;80:144-152 (Source: Human Heredity)
Source: Human Heredity - June 24, 2016 Category: Genetics & Stem Cells Source Type: research
Haplotype Study in Argentinean Variegate Porphyria Patients
Conclusion: There is a recent founder effect in our population for this particular genetic alteration in variegate porphyria.Hum Hered 2015;80:139-143 (Source: Human Heredity)
Source: Human Heredity - May 24, 2016 Category: Genetics & Stem Cells Source Type: research
Rare-Variant Kernel Machine Test for Longitudinal Data from Population and Family Samples
Conclusion: We propose a method for rare-variant association testing in population and family samples using phenotypes measured at multiple time points for each subject. The proposed method has the best power performance compared to competing approaches in our simulation study.Hum Hered 2015;80:126-138 (Source: Human Heredity)
Source: Human Heredity - April 28, 2016 Category: Genetics & Stem Cells Source Type: research
Erratum
Hum Hered 2015;80:100 (Source: Human Heredity)
Source: Human Heredity - February 12, 2016 Category: Genetics & Stem Cells Source Type: research
A Novel Mixture Model to Estimate the Time to Drug Effect Onset and Its Association with Covariates
In this study, we develop a statistical mixture model for analyzing such longitudinal data. Our method estimates the onset of drug effect and assesses the association between the probability distribution of the onset times and possible contributing factors. Our mixture model treats the timing of onset as missing for each individual but restricts it, for simplicity, to two possible onset points, early or late. To estimate the model, we use an expectation-maximization-based approach and provide the general formulas of the variance and covariance matrix for the estimated parameters. Results: We evaluate the model's overall ut...
Source: Human Heredity - January 16, 2016 Category: Genetics & Stem Cells Source Type: research
Efficient Identification of Null-Allele Single Nucleotide Polymorphism Markers
Conclusions: Properly identified null-allele SNPs can be used to test for genotype-phenotype associations or to identify regions which may contain copy number variants.Hum Hered 2015;80:79-89 (Source: Human Heredity)
Source: Human Heredity - November 27, 2015 Category: Genetics & Stem Cells Source Type: research
Estimating the Total Pathogenic Allele Frequency of Autosomal Recessive Disorders in Case of Consanguinity
Hum Hered 2015;80:69-78 (Source: Human Heredity)
Source: Human Heredity - November 6, 2015 Category: Genetics & Stem Cells Source Type: research
Royal Inbreeding and the Extinction of Lineages of the Habsburg Dynasty
Conclusions: It is shown that the interaction between inbreeding and historical contingency is critical for the understanding of the downfall of the Spanish Habsburgs and the continuity of the Austrian lineage.Hum Hered 2015;80:62-68 (Source: Human Heredity)
Source: Human Heredity - October 10, 2015 Category: Genetics & Stem Cells Source Type: research
A Case Study of Fixed-Effects and Random-Effects Meta-Analysis Models for Genome-Wide Association Studies in Celiac Disease
Conclusion: This case study highlights the strengths of RE MA methods in the presence of heterogeneity and of pooled FE methods.Hum Hered 2015;80:51-61 (Source: Human Heredity)
Source: Human Heredity - October 6, 2015 Category: Genetics & Stem Cells Source Type: research
Transmission Disequilibrium Tests Based on Read Counts for Low-Coverage Next-Generation Sequence Data
The purpose of this paper is the introduction of new statistical methods for case-parent trio association studies based on the read counts that can be obtained from next-generation sequencing (NGS) experiments. This work focuses on the inclusion of low-coverage data into the case-parent trio design without genotype classification or imputation. Two different approaches are considered: (1) a likelihood-based approach implementing a 15-component parametric mixture model and (2) a model-free approach that applies non-parametric statistical methods to the ratios of the read counts to coverage. Simulation studies are conducted ...
Source: Human Heredity - August 12, 2015 Category: Genetics & Stem Cells Source Type: research
A Hierarchical Generalized Linear Model in Combination with Dispersion Modeling to Improve Sib-Pair Linkage Analysis
Conclusion: The study shows that the HGLM in combination with dispersion modeling can be utilized to identify multiple markers showing linkage to familial complex traits accurately. Appropriate dispersion modeling might be more powerful to identify markers closest to the major genes which determine a quantitative trait.Hum Hered 2015;80:12-20 (Source: Human Heredity)
Source: Human Heredity - July 30, 2015 Category: Genetics & Stem Cells Source Type: research
Pedigree-Free Descent-Based Gene Mapping from Population Samples
Segments of the genome inherited from a common ancestor by related individuals are said to be identical by descent (IBD). Modern genetic marker data provide information to infer such segments among multiple related members of a population, even when pedigree relationships are unknown. Previous methods have been proposed for the detection of pairwise IBD, but the computation of probabilities of trait data under many trait models requires an IBD estimate jointly consistent among individuals and slowly varying across genome locations; we refer to such an estimate as an ‘IBD graph'. In this paper, we develop a novel method t...
Source: Human Heredity - July 24, 2015 Category: Genetics & Stem Cells Source Type: research
Title Page / Table of Contents
Hum Hered 2015;79:105-108 (Source: Human Heredity)
Source: Human Heredity - July 22, 2015 Category: Genetics & Stem Cells Source Type: research
Integration of Omics Data in Genetic Epidemiology
Hum Hered 2015;79:109-110 (Source: Human Heredity)
Source: Human Heredity - July 22, 2015 Category: Genetics & Stem Cells Source Type: research
Phenome-Wide Association Studies: Embracing Complexity for Discovery
The inherent complexity of biological systems can be leveraged for a greater understanding of the impact of genetic architecture on outcomes, traits, and pharmacological response. The genome-wide association study (GWAS) approach has well-developed methods and relatively straight-forward methodologies; however, the bigger picture of the impact of genetic architecture on phenotypic outcome still remains to be elucidated even with an ever-growing number of GWAS performed. Greater consideration of the complexity of biological processes, using more data from the phenome, exposome, and diverse -omic resources, including conside...
Source: Human Heredity - July 22, 2015 Category: Genetics & Stem Cells Source Type: research
