Author and Subject Index
Hum Hered 2015;80:207 (Source: Human Heredity)
Source: Human Heredity - September 30, 2016 Category: Genetics & Stem Cells Source Type: research
The Use of the Linear Mixed Model in Human Genetics
We give a short but detailed review of the methods used to deal with linear mixed models (restricted likelihood, AIREML algorithm, best linear unbiased predictors, etc.), with a few original points. Then we describe three common applications of the linear mixed model in contemporary human genetics: association testing (pathways analysis or rare variants association tests), genomic heritability estimates, and correction for population stratification in genome-wide association studies. We also consider the performance of best linear unbiased predictors for prediction in this context, through a simulation study for rare varia...
Source: Human Heredity - August 31, 2016 Category: Genetics & Stem Cells Source Type: research
Retrospective Association Analysis of Binary Traits: Overcoming Some Limitations of the Additive Polygenic Model
Case-control genetic association analysis is an extremely common tool in human complex trait mapping. From a statistical point of view, the analysis of binary traits poses somewhat different challenges from the analysis of quantitative traits. Desirable features of a binary trait mapping approach would include (1) phenotype modeled as binary, with appropriate dependence between the mean and variance; (2) appropriate correction for relevant covariates; (3) appropriate correction for sample structure of various types, including related individuals, admixture and other types of population structure; (4) both fast and accurate...
Source: Human Heredity - August 31, 2016 Category: Genetics & Stem Cells Source Type: research
Accuracy of Gene Scores when Pruning Markers by Linkage Disequilibrium
Conclusions: The small gains observed to date from joint modelling can be explained by sample size. As studies become larger, joint modelling will be useful for traits affected by many correlated variants, but the improvements may remain small. Pruning remains a useful heuristic for current studies.Hum Hered 2015;80:178-186 (Source: Human Heredity)
Source: Human Heredity - August 31, 2016 Category: Genetics & Stem Cells Source Type: research
Revisiting the Polygenic Additive Liability Model through the Example of Diabetes Mellitus
Most studies on multifactorial diseases are performed under the assumption of a polygenic additive liability. In particular, missing heritability and individual risk scores are estimated under this model. In this paper, we use the example of diabetes to highlight the pitfalls of relying on such a model, when there are reasons to suspect etiological heterogeneity and/or departure from the hypotheses on the environmental factor effects.Hum Hered 2015;80:171-177 (Source: Human Heredity)
Source: Human Heredity - August 31, 2016 Category: Genetics & Stem Cells Source Type: research
Concepts and Misconceptions about the Polygenic Additive Model Applied to Disease
It is nearly one hundred years, since R.A. Fisher published his now famous paper that started the field of quantitative genetics. That paper reconciled Mendelian genetics (as exemplified by Mendel's peas) and the biometrical approach to quantitative traits (as exemplified by the correlation and regression approaches from Galton and Pearson), by showing that a simple model of many genes of small effects, each following Mendel's laws of segregation and inheritance, plus environmental variation could account for the observed resemblance between relatives. In this review, we discuss a number of concepts and misconceptions abou...
Source: Human Heredity - August 31, 2016 Category: Genetics & Stem Cells Source Type: research
Polygenic Models for Risk Prediction in Human Genetics
After a brief discussion and evaluation of Fisher's additive polygenic inheritance model, a few other approaches to polygenic inheritance are discussed, notably the polygenic threshold model. A literature review of applications of such models in human genetics is presented, and a simple approach, based on a finite polygenic model, is developed in detail. The fit of the model to recurrence risks in schizophrenia is discussed.Hum Hered 2015;80:162-164 (Source: Human Heredity)
Source: Human Heredity - August 31, 2016 Category: Genetics & Stem Cells Source Type: research
Making Optimal Use of and Extending beyond Polygenic Additive Liability Models
Hum Hered 2015;80:158-161 (Source: Human Heredity)
Source: Human Heredity - August 31, 2016 Category: Genetics & Stem Cells Source Type: research
Editor's Note
Hum Hered 2015;80:157 (Source: Human Heredity)
Source: Human Heredity - August 31, 2016 Category: Genetics & Stem Cells Source Type: research
Title Page / Table of Contents
Hum Hered 2015;80:153-156 (Source: Human Heredity)
Source: Human Heredity - August 31, 2016 Category: Genetics & Stem Cells Source Type: research
Contents Vol. 80, No. 4, 2015
Hum Hered 2015;80:I-IV (Source: Human Heredity)
Source: Human Heredity - August 31, 2016 Category: Genetics & Stem Cells Source Type: research
Phenotypically Enriched Genotypic Imputation in Genetic Association Tests
Conclusion: The PEGI method may improve power to detect an association over both CC and GI under many circumstances.Hum Hered 2016;81:35-45 (Source: Human Heredity)
Source: Human Heredity - August 30, 2016 Category: Genetics & Stem Cells Source Type: research
Leveraging Methylome-Environment Interaction to Detect Genetic Determinants of Disease
Conclusion: The M-ME test is an attractive choice for studies aiming to detect any DNA methylation association when little is known about the epigenetic associations a priori.Hum Hered 2016;81:26-34 (Source: Human Heredity)
Source: Human Heredity - August 4, 2016 Category: Genetics & Stem Cells Source Type: research
When Is an Endophenotype Useful to Detect Association to a Disease? Exploring the Relationships between Disease Status, Endophenotype and Genetic Polymorphisms
Conclusions: < /i > < /b > Joint modeling of disease and endophenotype should be used only in parallel with standard disease association testing. < br / > Hum Hered 2016;81:11-25 (Source: Human Heredity)
Source: Human Heredity - July 29, 2016 Category: Genetics & Stem Cells Source Type: research
Evaluation of a New Genetic Epidemiology Resource: The Intermountain Genealogy Registry
Conclusion: The Intermountain Genealogy Registry is a multifaceted resource created to provide insights into the genetic components of cardiovascular and other diseases. This registry provides the means for easy identification and ascertainment of high-risk pedigrees for discovery of genetic susceptibility variants.Hum Hered 2016;81:1-10 (Source: Human Heredity)
Source: Human Heredity - July 15, 2016 Category: Genetics & Stem Cells Source Type: research
