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  1. Proceedings

    Identity-by-descent mapping for diastolic blood pressure in unrelated Mexican Americans

    Population-based identity by descent (IBD) mapping is a statistical method for detection of genetic loci that share an ancestral segment among “unrelated” pairs of individuals for a disease. As a complementary...

    Xiao-Qing Liu, Jillian Fazio, Pingzhao Hu and Andrew D. Paterson

    BMC Proceedings 2016 10(Suppl 7):8

    Published on: 18 October 2016

    This article is part of a Supplement: Volume 10 Supplement 7

  2. Proceedings

    Independent test assessment using the extreme value distribution theory

    The new generation of whole genome sequencing platforms offers great possibilities and challenges for dissecting the genetic basis of complex traits. With a very high number of sequence variants, a naïve multi...

    Marcio Almeida, Lucy Blondell, Juan M. Peralta, Jack W. Kent Jr, Goo Jun, Tanya M. Teslovich, Christian Fuchsberger, Andrew R. Wood, Alisa K. Manning, Timothy M. Frayling, Pablo E. Cingolani, Robert Sladek, Thomas D. Dyer, Goncalo Abecasis, Ravindranath Duggirala and John Blangero

    BMC Proceedings 2016 10(Suppl 7):63

    Published on: 18 October 2016

    This article is part of a Supplement: Volume 10 Supplement 7

  3. Proceedings

    Comparing machine learning and logistic regression methods for predicting hypertension using a combination of gene expression and next-generation sequencing data

    Machine learning methods continue to show promise in the analysis of data from genetic association studies because of the high number of variables relative to the number of observations. However, few best prac...

    Elizabeth Held, Joshua Cape and Nathan Tintle

    BMC Proceedings 2016 10(Suppl 7):34

    Published on: 18 October 2016

    This article is part of a Supplement: Volume 10 Supplement 7

  4. Proceedings

    On combining family- and population-based sequencing data

    Several statistical group-based approaches have been proposed to detect effects of variation within a gene for each of the population- and family-based designs. However, unified tests to combine gene-phenotype...

    Yuriko Katsumata and David W. Fardo

    BMC Proceedings 2016 10(Suppl 7):21

    Published on: 18 October 2016

    This article is part of a Supplement: Volume 10 Supplement 7

  5. Proceedings

    The impact of genetic structure on sequencing analysis

    Genome-wide association studies have made substantial progress in identifying common variants associated with human diseases. Despite such success, a large portion of heritability remains unexplained. Evolutio...

    Sneha Jadhav, Olga A. Vsevolozhskaya, Xiaoran Tong and Qing Lu

    BMC Proceedings 2016 10(Suppl 7):60

    Published on: 18 October 2016

    This article is part of a Supplement: Volume 10 Supplement 7

  6. Proceedings

    Genetic association analysis based on a joint model of gene expression and blood pressure

    Recent work on genetic association studies suggests that much of the heritable variation in complex traits is unexplained, which indicates a need for using more biologically meaningful modeling approaches and ...

    Stefan Konigorski, Yildiz E. Yilmaz and Tobias Pischon

    BMC Proceedings 2016 10(Suppl 7):57

    Published on: 18 October 2016

    This article is part of a Supplement: Volume 10 Supplement 7

  7. Proceedings

    Causal effect estimation in sequencing studies: a Bayesian method to account for confounder adjustment uncertainty

    Estimating the causal effect of a single nucleotide variant (SNV) on clinical phenotypes is of interest in many genetic studies. The effect estimation may be confounded by other SNVs as a result of linkage dis...

    Chi Wang, Jinpeng Liu and David W. Fardo

    BMC Proceedings 2016 10(Suppl 7):38

    Published on: 18 October 2016

    This article is part of a Supplement: Volume 10 Supplement 7

  8. Proceedings

    Imputing rare variants in families using a two-stage approach

    Recent focus on studying rare variants makes imputation accuracy of rare variants an important issue. Many approaches have been proposed to increase imputation accuracy among rare variants, from reference pane...

    Samantha Lent, Xuan Deng, L. Adrienne Cupples, Kathryn L. Lunetta, CT Liu and Yanhua Zhou

    BMC Proceedings 2016 10(Suppl 7):48

    Published on: 18 October 2016

    This article is part of a Supplement: Volume 10 Supplement 7

  9. Proceedings

    Network-guided interaction mining for the blood pressure phenotype of unrelated individuals in genetic analysis workshop 19

    Interactions between genes are an important part of the genetic architecture of complex diseases. In this paper, we use literature-guided individual genes known to be associated with type 2 diabetes (referred ...

    Adeline Lo, Michael Agne, Jonathan Auerbach, Rachel Fan, Shaw-Hwa Lo, Pei Wang and Tian Zheng

    BMC Proceedings 2016 10(Suppl 7):13

    Published on: 18 October 2016

    This article is part of a Supplement: Volume 10 Supplement 7

  10. Proceedings

    Using gene expression data to identify causal pathways between genotype and phenotype in a complex disease: application to Genetic Analysis Workshop 19

    We explore causal relationships between genotype, gene expression and phenotype in the Genetic Analysis Workshop 19 data. We compare the use of structural equation modeling and a Bayesian unified framework app...

    Holly F. Ainsworth and Heather J. Cordell

    BMC Proceedings 2016 10(Suppl 7):49

    Published on: 18 October 2016

    This article is part of a Supplement: Volume 10 Supplement 7

  11. Proceedings

    A novel statistical method for rare-variant association studies in general pedigrees

    Both population-based and family-based designs are commonly used in genetic association studies to identify rare variants that underlie complex diseases. For any type of study design, the statistical power wil...

    Huanhuan Zhu, Zhenchuan Wang, Xuexia Wang and Qiuying Sha

    BMC Proceedings 2016 10(Suppl 7):22

    Published on: 18 October 2016

    This article is part of a Supplement: Volume 10 Supplement 7

  12. Proceedings

    Factors associated with heterogeneity in microarray gene expression in peripheral blood mononuclear cells from large pedigrees

    Genome-wide microarray expression is a rich source of functional genomic data. We examined evidence for differences in expression from peripheral blood mononuclear cells between individuals, examined some of f...

    Michael Gallaugher, Angelo J. Canty and Andrew D. Paterson

    BMC Proceedings 2016 10(Suppl 7):58

    Published on: 18 October 2016

    This article is part of a Supplement: Volume 10 Supplement 7

  13. Proceedings

    Joint analysis of multiple blood pressure phenotypes in GAW19 data by using a multivariate rare-variant association test

    Large-scale sequencing studies often measure many related phenotypes in addition to the genetic variants. Joint analysis of multiple phenotypes in genetic association studies may increase power to detect disea...

    Jianping Sun, Sahir R. Bhatnagar, Karim Oualkacha, Antonio Ciampi and Celia M. T. Greenwood

    BMC Proceedings 2016 10(Suppl 7):14

    Published on: 18 October 2016

    This article is part of a Supplement: Volume 10 Supplement 7

  14. Proceedings

    Assessing transmission ratio distortion in extended families: a comparison of analysis methods

    A statistical departure from Mendel’s law of segregation is known as transmission ratio distortion. Although well documented in many other organisms, the extent of transmission ratio distortion and its influen...

    Sahir R. Bhatnagar, Celia M. T. Greenwood and Aurélie Labbe

    BMC Proceedings 2016 10(Suppl 7):12

    Published on: 18 October 2016

    This article is part of a Supplement: Volume 10 Supplement 7

  15. Proceedings

    Gene coexpression network analysis for family studies based on a meta-analytic approach

    For a better understanding of the biological mechanisms involved in complex traits or diseases, networks are often useful tools in genetic studies: coexpression networks based on pairwise correlations between ...

    Renaud Tissier, Hae-Won Uh, Erik van den Akker, Brunilda Balliu, Spyridoula Tsonaka and Jeanine Houwing-Duistermaat

    BMC Proceedings 2016 10(Suppl 7):35

    Published on: 18 October 2016

    This article is part of a Supplement: Volume 10 Supplement 7

  16. Proceedings

    Testing rare variants for hypertension using family-based tests with different weighting schemes

    Next-generation sequencing technology makes directly testing rare variants possible. However, existing statistical methods to detect common variants may not be optimal for testing rare variants because of alle...

    Xuexia Wang, Xingwang Zhao and Jin Zhou

    BMC Proceedings 2016 10(Suppl 7):61

    Published on: 18 October 2016

    This article is part of a Supplement: Volume 10 Supplement 7

  17. Proceedings

    A multistep approach to single nucleotide polymorphism–set analysis: an evaluation of power and type I error of gene-based tests of association after pathway-based association tests

    The aggregation of functionally associated variants given a priori biological information can aid in the discovery of rare variants associated with complex diseases. Many methods exist that aggregate rare vari...

    Alessandra Valcarcel, Kelsey Grinde, Kaitlyn Cook, Alden Green and Nathan Tintle

    BMC Proceedings 2016 10(Suppl 7):16

    Published on: 18 October 2016

    This article is part of a Supplement: Volume 10 Supplement 7

  18. Proceedings

    Homozygosity disequilibrium and its gene regulation

    Homozygosity disequilibrium (HD) describes a nonrandom pattern of sizable runs of homozygosity (ROH) that deviated from a random distribution of homozygotes and heterozygotes in the genome. In this study, we d...

    Hsin-Chou Yang and Yu-Ting Lin

    BMC Proceedings 2016 10(Suppl 7):27

    Published on: 18 October 2016

    This article is part of a Supplement: Volume 10 Supplement 7

  19. Proceedings

    Incorporation of protein binding effects into likelihood ratio test for exome sequencing data

    Statistical association studies are an important tool in detecting novel disease genes. However, for sequencing data, association studies confront the challenge of low power because of relatively small data sa...

    Dongni Zhang, Hongzhu Cui, Dmitry Korkin and Zheyang Wu

    BMC Proceedings 2016 10(Suppl 7):18

    Published on: 18 October 2016

    This article is part of a Supplement: Volume 10 Supplement 7

  20. Proceedings

    Association of genetic variations and gene expression in a family-based study

    Expression quantitative trait locus (eQTL) maps are considered a valuable resource in studying complex diseases. The availability of gene expression data from the Genetic Analysis Workshop 19 (GAW19) provides ...

    Achilleas N. Pitsillides, Seung-Hoan Choi, John D. Hogan, Jaeyoung Hong and Honghuang Lin

    BMC Proceedings 2016 10(Suppl 7):31

    Published on: 18 October 2016

    This article is part of a Supplement: Volume 10 Supplement 7

  21. Proceedings

    Using next-generation DNA sequence data for genetic association tests based on allele counts with and without consideration of zero inflation

    The relationship between genetic variability and individual phenotypes is usually investigated by testing for association relying on called genotypes. Allele counts obtained from next-generation sequence data ...

    Rosa González Silos, Özge Karadag, Barbara Peil, Christine Fischer, Maria Kabisch, Carine Legrand and Justo Lorenzo Bermejo

    BMC Proceedings 2016 10(Suppl 7):41

    Published on: 18 October 2016

    This article is part of a Supplement: Volume 10 Supplement 7

  22. Proceedings

    Powerful association test combining rare variant and gene expression using family data from Genetic Analysis Workshop 19

    Genetic association studies aim to test for disease or trait association with genetic variants, either throughout the human genome or in regions of interest. However, for most diseases and traits, the combined...

    Yen-Yi Ho, Weihua Guan, Michael O’Connell and Saonli Basu

    BMC Proceedings 2016 10(Suppl 7):26

    Published on: 18 October 2016

    This article is part of a Supplement: Volume 10 Supplement 7

  23. Proceedings

    Genome-wide association of trajectories of systolic blood pressure change

    There is great interindividual variation in systolic blood pressure (SBP) as a result of the influences of several factors, including sex, ancestry, smoking status, medication use, and, especially, age. The ma...

    Anne E. Justice, Annie Green Howard, Geetha Chittoor, Lindsay Fernandez-Rhodes, Misa Graff, V. Saroja Voruganti, Guoqing Diao, Shelly-Ann M. Love, Nora Franceschini, Jeffrey R. O’Connell, Christy L. Avery, Kristin L. Young and Kari E. North

    BMC Proceedings 2016 10(Suppl 7):56

    Published on: 18 October 2016

    This article is part of a Supplement: Volume 10 Supplement 7

  24. Proceedings

    Comparison of parametric and machine methods for variable selection in simulated Genetic Analysis Workshop 19 data

    Current findings from genetic studies of complex human traits often do not explain a large proportion of the estimated variation of these traits due to genetic factors. This could be, in part, due to overly st...

    Emily R. Holzinger, Silke Szymczak, James Malley, Elizabeth W. Pugh, Hua Ling, Sean Griffith, Peng Zhang, Qing Li, Cheryl D. Cropp and Joan E. Bailey-Wilson

    BMC Proceedings 2016 10(Suppl 7):52

    Published on: 18 October 2016

    This article is part of a Supplement: Volume 10 Supplement 7

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