Human Birth Weight and Reproductive Immunology: Testing for Interactions between Maternal and Offspring < b > < i > KIR < /i > < /b > and < b > < i > HLA-C < /i > < /b > Genes
Conclusion: We find a significantKIR-HLA-C interaction effect on birth weight. More generally, the QMFG test can detect genetic associations that may be missed by standard genome-wide association studies for quantitative traits.Hum Hered 2016;81:181-193 (Source: Human Heredity)
Source: Human Heredity - February 17, 2017 Category: Genetics & Stem Cells Source Type: research

How Can We Explain Very Low Odds Ratios in GWAS I. Polygenic Models
Genome-wide association studies of common diseases often identify a number of disease-related SNPs that reach highly significantp values but at the same time show very low disease odds ratios (ORs), most (Source: Human Heredity)
Source: Human Heredity - February 8, 2017 Category: Genetics & Stem Cells Source Type: research

How Can We Explain Very Low Odds Ratios in GWAS? I. Polygenic Models
Genome-wide association studies of common diseases often identify a number of disease-related SNPs that reach highly significantp values but at the same time show very low disease odds ratios (ORs), most (Source: Human Heredity)
Source: Human Heredity - February 7, 2017 Category: Genetics & Stem Cells Source Type: research

Subject Index Vol. 81, No. 2, 2016
Hum Hered 2016;81:128 (Source: Human Heredity)
Source: Human Heredity - January 11, 2017 Category: Genetics & Stem Cells Source Type: research

Author Index Vol. 81, No. 2, 2016
Hum Hered 2016;81:127 (Source: Human Heredity)
Source: Human Heredity - January 11, 2017 Category: Genetics & Stem Cells Source Type: research

Title Page / Table of Contents
Hum Hered 2016;81:47-50 (Source: Human Heredity)
Source: Human Heredity - January 11, 2017 Category: Genetics & Stem Cells Source Type: research

SAGES 2015. Symposium of Advances in Genomics, Epidemiology and Statistics 2015: Abstracts
Hum Hered 2016;81:51-61 (Source: Human Heredity)
Source: Human Heredity - January 11, 2017 Category: Genetics & Stem Cells Source Type: research

Identifying Host Genetic Variants Associated with Microbiome Composition by Testing Multiple Beta Diversity Matrices
Conclusion: We developed computationally efficient methods for identifying host genetic variants associated with microbiome composition by testing many distance matrices. The algorithms are implemented in the package microbiomeGWAS (https://github.com/lsncibb/microbiomeGWAS).Hum Hered 2016;81:117-126 (Source: Human Heredity)
Source: Human Heredity - January 11, 2017 Category: Genetics & Stem Cells Source Type: research

Gene Mapping in Admixed Families: A Cautionary Note on the Interpretation of the Transmission Disequilibrium Test and a Possible Solution
A family-based study design is commonly used in gene mapping studies of complex human diseases. Most family-based studies use the transmission of alleles to assess evidence of association. It is generally believed that the transmission disequilibrium test (TDT) is robust against spurious association due to population stratification or admixture. While this is true when population stratification is due to discrete population structure, one should use the TDT-type methods with caution when they are applied to admixed populations in which population structure exists in local genomic regions. In a recently admixed population, ...
Source: Human Heredity - January 11, 2017 Category: Genetics & Stem Cells Source Type: research

Computational Prediction of the Global Functional Genomic Landscape: Applications, Methods, and Challenges
This article reviews various applications of prediction methods in functional genomics, discusses analytical challenges, and highlights some common and effective strategies used to develop prediction methods for functional genomic data.Hum Hered 2016;81:88-105 (Source: Human Heredity)
Source: Human Heredity - January 11, 2017 Category: Genetics & Stem Cells Source Type: research

Non-Coding Loss-of-Function Variation in Human Genomes
Whole-genome and exome sequencing in human populations has revealed the tolerance of each gene for loss-of-function variation. By understanding this tolerance, it has become increasingly possible to identify genes that would make safe therapeutic targets and to identify rare genetic risk factors and phenotypes at the scale of individual genomes. To date, the vast majority of surveyed loss-of-function variants are in protein-coding regions of the genome mainly due to the focus on these regions by exome-based sequencing projects and their relative ease of interpretability. As whole-genome sequencing becomes more prevalent, n...
Source: Human Heredity - January 11, 2017 Category: Genetics & Stem Cells Source Type: research

Biophysically Motivated Regulatory Network Inference: Progress and Prospects
Thanks to the confluence of genomic technology and computational developments, the possibility of network inference methods that automatically learn large comprehensive models of cellular regulation is closer than ever. This perspective focuses on enumerating the elements of computational strategies that, when coupled to appropriate experimental designs, can lead to accurate large-scale models of chromatin state and transcriptional regulatory structure and dynamics. We highlight 4 research questions that require further investigation in order to make progress in network inference: (1) using overall constraints on network s...
Source: Human Heredity - January 11, 2017 Category: Genetics & Stem Cells Source Type: research

A General Framework for the Evaluation of Genetic Association Studies Using Multiple Marginal Models
Conclusion: The flexibility of the proposed approach is demonstrated while analyzing a variety of data examples.Hum Hered 2016;81:150-172 (Source: Human Heredity)
Source: Human Heredity - December 21, 2016 Category: Genetics & Stem Cells Source Type: research

From Common to Rare Variants: The Genetic Component of Alzheimer Disease
Alzheimer disease (AD) is a remarkable example of genetic heterogeneity. Extremely rare variants in theAPP,PSEN1, orPSEN2 genes, or duplications of theAPP gene cause autosomal dominant forms, generally with complete penetrance by the age of 65 years. Nonautosomal dominant forms are considered as a complex disorder with a high genetic component, whatever the age of onset. Although genetically heterogeneous, AD is defined by the same neuropathological criteria in all configurations. According to the amyloid cascade hypothesis, the A β peptide, which aggregates in AD brains, is a key player.APP,PSEN1, orPSEN2 gene mutations ...
Source: Human Heredity - December 21, 2016 Category: Genetics & Stem Cells Source Type: research

Meta-Analysis for Penalized Regression Methods with Multi-Cohort Genome-Wide Association Studies
Conclusion: After comparing the three methods that we proposed to conduct meta-analysis, we recommend splitting cohorts rather than datasets to obtain valid p values for meta-analysis of results from penalized regression in multi-cohort setting.Hum Hered 2016;81:142-149 (Source: Human Heredity)
Source: Human Heredity - December 21, 2016 Category: Genetics & Stem Cells Source Type: research