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Human Heredity

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https://www.readbyqxmd.com/read/28376496/45th-european-mathematical-genetics-meeting-emgm-2017-tartu-estonia-april-4-7-2017-abstracts
#1
(no author information available yet)
No abstract text is available yet for this article.
April 4, 2017: Human Heredity
https://www.readbyqxmd.com/read/27475094/when-is-an-endophenotype-useful-to-detect-association-to-a-disease-exploring-the-relationships-between-disease-status-endophenotype-and-genetic-polymorphisms
#2
Alexandre Bureau, Jordie Croteau
OBJECTIVES: To investigate the conditions and analysis strategies required so that endophenotypes related to a disease help discover genetic variants involved in the disease. METHODS: The association with disease susceptibility variants is examined as a function of the relationships between disease status, endophenotype values and the genotype at another disease or endophenotype susceptibility locus assumed to be previously known, using approximate linear models of allele frequencies as a function of these variables and simulations in the context of family studies when the endophenotype is dichotomous...
July 30, 2016: Human Heredity
https://www.readbyqxmd.com/read/27424187/evaluation-of-a-new-genetic-epidemiology-resource-the-intermountain-genealogy-registry
#3
Stacey Knight, Arthur T Maness, Sue M Dintelman, Benjamin D Horne
BACKGROUND: Many landmark genetic breakthroughs, including the recent discovery of PCSK-9 inhibitor drugs, were accomplished with substantial contributions from evaluation of pedigrees. Finding and ascertaining high-value pedigrees is not trivial and requires considerable time and cost. Here, we describe the creation of the Intermountain Genealogy Registry for use in studying the genetics of cardiovascular and other diseases. METHODS: Using publicly available pedigree records and probabilistic linkage techniques, we created a genealogy of ≈23 million records that we linked to 3...
July 16, 2016: Human Heredity
https://www.readbyqxmd.com/read/28315880/an-analytic-solution-to-the-computation-of-power-and-sample-size-for-genetic-association-studies-under-a-pleiotropic-mode-of-inheritance
#4
Derek Gordon, Douglas Londono, Payal Patel, Wonkuk Kim, Stephen J Finch, Gary A Heiman
Our motivation here is to calculate the power of 3 statistical tests used when there are genetic traits that operate under a pleiotropic mode of inheritance and when qualitative phenotypes are defined by use of thresholds for the multiple quantitative phenotypes. Specifically, we formulate a multivariate function that provides the probability that an individual has a vector of specific quantitative trait values conditional on having a risk locus genotype, and we apply thresholds to define qualitative phenotypes (affected, unaffected) and compute penetrances and conditional genotype frequencies based on the multivariate function...
2016: Human Heredity
https://www.readbyqxmd.com/read/28214848/human-birth-weight-and-reproductive-immunology-testing-for-interactions-between-maternal-and-offspring-kir-and-hla-c-genes
#5
Michelle M Clark, Olympe Chazara, Eric M Sobel, Håkon K Gjessing, Per Magnus, Ashley Moffett, Janet S Sinsheimer
BACKGROUND/AIMS: Maternal and offspring cell contact at the site of placentation presents a plausible setting for maternal-fetal genotype (MFG) interactions affecting fetal growth. We test hypotheses regarding killer cell immunoglobulin-like receptor (KIR) and HLA-C MFG effects on human birth weight by extending the quantitative MFG (QMFG) test. METHODS: Until recently, association testing for MFG interactions had limited applications. To improve the ability to test for these interactions, we developed the extended QMFG test, a linear mixed-effect model that can use multi-locus genotype data from families...
2016: Human Heredity
https://www.readbyqxmd.com/read/28171865/how-can-we-explain-very-low-odds-ratios-in-gwas-i-polygenic-models
#6
Susan E Hodge, David A Greenberg
Genome-wide association studies of common diseases often identify a number of disease-related SNPs that reach highly significant p values but at the same time show very low disease odds ratios (ORs), most <1.5 and many <1.2. Despite their statistical significance, associations involving very low ORs explain little about the genetic contribution to the disease and nothing about disease inheritance. A commonly accepted explanation for very low ORs involves a model of polygenic inheritance, i.e., where the disease being studied is caused by a large number of interacting genes, each gene contributing only a small increment to disease risk...
2016: Human Heredity
https://www.readbyqxmd.com/read/28076869/computational-prediction-of-the-global-functional-genomic-landscape-applications-methods-and-challenges
#7
REVIEW
Weiqiang Zhou, Ben Sherwood, Hongkai Ji
Technological advances have led to an explosive growth of high-throughput functional genomic data. Exploiting the correlation among different data types, it is possible to predict one functional genomic data type from other data types. Prediction tools are valuable in understanding the relationship among different functional genomic signals. They also provide a cost-efficient solution to inferring the unknown functional genomic profiles when experimental data are unavailable due to resource or technological constraints...
2016: Human Heredity
https://www.readbyqxmd.com/read/28076868/sages-2015-symposium-of-advances-in-genomics-epidemiology-and-statistics-2015-abstracts
#8
(no author information available yet)
No abstract text is available yet for this article.
2016: Human Heredity
https://www.readbyqxmd.com/read/28076867/identifying-host-genetic-variants-associated-with-microbiome-composition-by-testing-multiple-beta-diversity-matrices
#9
Xing Hua, James J Goedert, Maria Teresa Landi, Jianxin Shi
OBJECTIVES: Host genetics have been recently reported to affect human microbiome composition. We previously developed a statistical framework, microbiomeGWAS, to identify host genetic variants associated with microbiome composition by testing a distance matrix. However, statistical power depends on the choice of a microbiome distance matrix. To achieve more robust statistical power, we aim to extend microbiomeGWAS to test the association with many distance matrices, which are defined based on multilevel taxa abundances and phylogenetic information...
2016: Human Heredity
https://www.readbyqxmd.com/read/28076866/biophysically-motivated-regulatory-network-inference-progress-and-prospects
#10
REVIEW
Tarmo Äijö, Richard Bonneau
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 structure such as sparsity, (2) use of informative priors and data integration to constrain individual model parameters, (3) estimation of latent regulatory factor activity under varying cell conditions, and (4) new methods for learning and modeling regulatory factor interactions...
2016: Human Heredity
https://www.readbyqxmd.com/read/28076865/gene-mapping-in-admixed-families-a-cautionary-note-on-the-interpretation-of-the-transmission-disequilibrium-test-and-a-possible-solution
#11
Xuexia Wang, Rui Xiao, Xiaofeng Zhu, Mingyao Li
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...
2016: Human Heredity
https://www.readbyqxmd.com/read/28076859/title-page-table-of-contents
#12
(no author information available yet)
No abstract text is available yet for this article.
2016: Human Heredity
https://www.readbyqxmd.com/read/28076858/non-coding-loss-of-function-variation-in-human-genomes
#13
REVIEW
Zachary Zappala, Stephen B Montgomery
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...
2016: Human Heredity
https://www.readbyqxmd.com/read/28002825/from-common-to-rare-variants-the-genetic-component-of-alzheimer-disease
#14
REVIEW
Gaël Nicolas, Camille Charbonnier, Dominique Campion
Alzheimer disease (AD) is a remarkable example of genetic heterogeneity. Extremely rare variants in the APP, PSEN1, or PSEN2 genes, or duplications of the APP 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 Aβ peptide, which aggregates in AD brains, is a key player...
2016: Human Heredity
https://www.readbyqxmd.com/read/28002824/a-general-framework-for-the-evaluation-of-genetic-association-studies-using-multiple-marginal-models
#15
Andreas Kitsche, Christian Ritz, Ludwig A Hothorn
OBJECTIVE: In this study, we present a simultaneous inference procedure as a unified analysis framework for genetic association studies. METHODS: The method is based on the formulation of multiple marginal models that reflect different modes of inheritance. The basic advantage of this methodology is that no explicit formulation of the correlation between the test statistics is required. Moreover, the genotype scores are considered as a quantitative explanatory variable, i...
2016: Human Heredity
https://www.readbyqxmd.com/read/28002817/meta-analysis-for-penalized-regression-methods-with-multi-cohort-genome-wide-association-studies
#16
Chen Lu, George T O'Connor, Josée Dupuis, Eric D Kolaczyk
OBJECTIVE: Penalized regression has been successfully applied in genome-wide association studies. While meta-analysis is often conducted to increase power and protect patients' confidentiality, methods for meta-analyzing results of penalized regression in multi-cohort setting are still under development. METHODS: We propose to use a data-splitting method to obtain valid p values (or equivalently, coefficient estimates and standard errors) for meta-analysis across multiple cohorts...
2016: Human Heredity
https://www.readbyqxmd.com/read/27576319/phenotypically-enriched-genotypic-imputation-in-genetic-association-tests
#17
Wei Vivian Zhuang, Joanne M Murabito, Kathryn L Lunetta
BACKGROUND: In longitudinal epidemiological studies there may be individuals with rich phenotype data who die or are lost to follow-up before providing DNA for genetic studies. Often, the genotypic and phenotypic data of the relatives are available. Two strategies for analyzing the incomplete data are to exclude ungenotyped subjects from analysis (the complete-case method, CC) and to include phenotyped but ungenotyped individuals in analysis by using relatives' genotypes for genotype imputation (GI)...
2016: Human Heredity
https://www.readbyqxmd.com/read/27490128/leveraging-methylome-environment-interaction-to-detect-genetic-determinants-of-disease
#18
Emily Slade, Peter Kraft
OBJECTIVE: The association between DNA methylation and a trait of interest may depend on an environmental exposure, and incorrectly accounting for this dependence can lead to a reduction in power of the standard tests used in epigenome-wide association studies. We present the M-ME test to jointly test for the main effect of DNA methylation and methylation-environment interaction. METHODS: Through simulation, we compare the power and type 1 error of the M-ME test to a standard marginal test (M test) and a standard interaction test (ME test) under 1,800 different underlying models...
2016: Human Heredity
https://www.readbyqxmd.com/read/25791167/43rd-european-mathematical-genetics-meeting-emgm-2015-april-16-17-2015-brest-france-abstracts
#19
(no author information available yet)
No abstract text is available yet for this article.
March 11, 2015: Human Heredity
https://www.readbyqxmd.com/read/27576761/contents-vol-80-no-4-2015
#20
(no author information available yet)
No abstract text is available yet for this article.
2015: Human Heredity
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