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  1. We conducted linkage analysis using the genome-wide association study data on chromosome 3, and then assessed association between hypertension and rare variants of genes located in the regions showing evidence...

    Authors: Yen-Feng Chiu, Ren-Hua Chung, Chun-Yi Lee, Hui-Yi Kao, Lin Hou and Fang-Chi Hsu
    Citation: BMC Proceedings 2014 8(Suppl 1):S109
    Content type: Proceedings Published on:

    This article is part of a Supplement: Volume 8 Supplement 1

  2. We conduct pedigree-based linkage and association analyses of simulated systolic blood pressure data in the nonascertained large Mexican American pedigrees provided by Genetic Analysis Workshop 18, focusing on...

    Authors: Shelley B Bull, Zhijian Chen, Kuan-Rui Tan and Julia Poirier
    Citation: BMC Proceedings 2014 8(Suppl 1):S107
    Content type: Proceedings Published on:

    This article is part of a Supplement: Volume 8 Supplement 1

  3. Pathway analysis approaches for sequence data typically either operate in a single stage (all variants within all genes in the pathway are combined into a single, very large set of variants that can then be an...

    Authors: Brian Greco, Alexander Luedtke, Allison Hainline, Carolina Alvarez, Andrew Beck and Nathan L Tintle
    Citation: BMC Proceedings 2014 8(Suppl 1):S105
    Content type: Proceedings Published on:

    This article is part of a Supplement: Volume 8 Supplement 1

  4. In Genetic Analysis Workshop 18 data, we used a 3-stage approach to explore the benefits of pathway analysis in improving a model to predict 2 diastolic blood pressure phenotypes as a function of genetic varia...

    Authors: Line Dufresne, Karim Oualkacha, Vincenzo Forgetta and Celia MT Greenwood
    Citation: BMC Proceedings 2014 8(Suppl 1):S103
    Content type: Proceedings Published on:

    This article is part of a Supplement: Volume 8 Supplement 1

  5. Our goal is to test the effect of both rare and common variants in a blood pressure study. We use a pathway-based approach, gene-set enrichment analysis, to search for related genes affecting 4 phenotypes: sys...

    Authors: Huda Alsulami, Xiaofeng Liu and Joseph Beyene
    Citation: BMC Proceedings 2014 8(Suppl 1):S101
    Content type: Proceedings Published on:

    This article is part of a Supplement: Volume 8 Supplement 1

  6. Graphical models are increasingly used in genetic analyses to take into account the complex relationships between genetic and nongenetic factors influencing the phenotypes. We propose a model for determining t...

    Authors: Rajesh Talluri and Sanjay Shete
    Citation: BMC Proceedings 2014 8(Suppl 1):S99
    Content type: Proceedings Published on:

    This article is part of a Supplement: Volume 8 Supplement 1

  7. Many complex diseases are related to genetics, and it is of great interest to evaluate the association between single-nucleotide polymorphisms (SNPs) and disease outcome. The association of genetics with outco...

    Authors: Jun Liu and Joseph Beyene
    Citation: BMC Proceedings 2014 8(Suppl 1):S97
    Content type: Proceedings Published on:

    This article is part of a Supplement: Volume 8 Supplement 1

  8. Background: Hypertension is a prevalent condition linked to major cardiovascular conditions and multiple other comorbidities. Genetic information can offer a deeper understanding about susceptibility and the unde...

    Authors: Ashley Bonner, Binod Neupane and Joseph Beyene
    Citation: BMC Proceedings 2014 8(Suppl 1):S95
    Content type: Proceedings Published on:

    This article is part of a Supplement: Volume 8 Supplement 1

  9. The linkage era left a rich legacy of pedigree samples that can be used for modern genome-wide association sequencing (GWAS) or next-generation sequencing (NGS) studies. Family designs are naturally equipped t...

    Authors: Hua Zhou, Jin Zhou, Eric M Sobel and Kenneth Lange
    Citation: BMC Proceedings 2014 8(Suppl 1):S93
    Content type: Proceedings Published on:

    This article is part of a Supplement: Volume 8 Supplement 1

  10. In this paper, we propose a novel mixed-effects model for longitudinal changes of systolic blood pressure (SBP) over time that can estimate the joint effect of multiple sequence variants on SBP after accountin...

    Authors: Yan Yan Wu and Laurent Briollais
    Citation: BMC Proceedings 2014 8(Suppl 1):S92
    Content type: Proceedings Published on:

    This article is part of a Supplement: Volume 8 Supplement 1

  11. Statistical genetic methods incorporating temporal variation allow for greater understanding of genetic architecture and consistency of biological variation influencing development of complex diseases. This st...

    Authors: Phillip E Melton and Laura A Almasy
    Citation: BMC Proceedings 2014 8(Suppl 1):S90
    Content type: Proceedings Published on:

    This article is part of a Supplement: Volume 8 Supplement 1

  12. We have extended our recently developed 2-step approach for gene-based analysis to the family design and to the analysis of rare variants. The goal of this approach is to study the joint effect of multiple sin...

    Authors: Jeanine J Houwing-Duistermaat, Quinta Helmer, Bruna Balliu, Erik van den Akker, Roula Tsonaka and Hae-Won Uh
    Citation: BMC Proceedings 2014 8(Suppl 1):S88
    Content type: Proceedings Published on:

    This article is part of a Supplement: Volume 8 Supplement 1

  13. Compared with microarray-based genotyping, next-generation whole genome sequencing (WGS) studies have the strength to provide greater information for the identification of rare variants, which likely account f...

    Authors: Taoye Chen, Patchara Santawisook and Zheyang Wu
    Citation: BMC Proceedings 2014 8(Suppl 1):S86
    Content type: Proceedings Published on:

    This article is part of a Supplement: Volume 8 Supplement 1

  14. In recent years, longitudinal family-based studies have had success in identifying genetic variants that influence complex traits in genome-wide association studies. In this paper, we suggest that longitudinal...

    Authors: Shuai Wang, Wei Gao, Julius Ngwa, Catherine Allard, Ching-Ti Liu and L Adrienne Cupples
    Citation: BMC Proceedings 2014 8(Suppl 1):S84
    Content type: Proceedings Published on:

    This article is part of a Supplement: Volume 8 Supplement 1

  15. Genetic association analysis on complex phenotypes under a longitudinal design involving pedigrees encounters the problem of correlation within pedigrees, which could affect statistical assessment of the genet...

    Authors: Qihua Tan, Jacob V B Hjelmborg, Mads Thomassen, Andreas Kryger Jensen, Lene Christiansen, Kaare Christensen, Jing Hua Zhao and Torben A Kruse
    Citation: BMC Proceedings 2014 8(Suppl 1):S82
    Content type: Proceedings Published on:

    This article is part of a Supplement: Volume 8 Supplement 1

  16. This article compares baseline, average, and longitudinal data analysis methods for identifying genetic variants in genome-wide association study using the Genetic Analysis Workshop 18 data. We apply methods t...

    Authors: Ahmed Hossain and Joseph Beyene
    Citation: BMC Proceedings 2014 8(Suppl 1):S80
    Content type: Proceedings Published on:

    This article is part of a Supplement: Volume 8 Supplement 1

  17. For the analysis of the longitudinal hypertension family data, we focused on modeling binary traits of hypertension measured repeatedly over time. Our primary objective is to examine predictive abilities of lo...

    Authors: Yun-Hee Choi, Rafiqul Chowdhury and Balakumar Swaminathan
    Citation: BMC Proceedings 2014 8(Suppl 1):S78
    Content type: Proceedings Published on:

    This article is part of a Supplement: Volume 8 Supplement 1

  18. In a genome-wide association study, association between disease trait and hundreds of thousands of genetic markers are tested. Several methods have been proposed to control the false discovery rate in such hig...

    Authors: Xin Qiu, Xiaowei Shen, Osvaldo Espin-Garcia, Abul Kalam Azad, Geoffrey Liu and Wei Xu
    Citation: BMC Proceedings 2014 8(Suppl 1):S76
    Content type: Proceedings Published on:

    This article is part of a Supplement: Volume 8 Supplement 1

  19. Heritable quantitative characters underline complex genetic traits. However, a single quantitative phenotype may not be a suitably good surrogate for a clinical end point trait.

    Authors: Arunabha Majumdar, Indranil Mukhopadhyay and Saurabh Ghosh
    Citation: BMC Proceedings 2014 8(Suppl 1):S74
    Content type: Proceedings Published on:

    This article is part of a Supplement: Volume 8 Supplement 1

  20. We conduct genetic association analysis in the subset of unrelated individuals from the San Antonio Family Studies pedigrees, applying a two-stage approach to take account of the dependence between systolic an...

    Authors: Stefan Konigorski, Yildiz E Yilmaz and Shelley B Bull
    Citation: BMC Proceedings 2014 8(Suppl 1):S72
    Content type: Proceedings Published on:

    This article is part of a Supplement: Volume 8 Supplement 1

  21. We propose a genetic association analysis using Dirichlet regression to analyze the Genetic Analysis Workshop 18 data. Clinical variables, arranged in a longitudinal data structure, are employed to fit a multi...

    Authors: Osvaldo Espin-Garcia, Xiaowei Shen, Xin Qiu, Yonathan Brhane, Geoffrey Liu and Wei Xu
    Citation: BMC Proceedings 2014 8(Suppl 1):S70
    Content type: Proceedings Published on:

    This article is part of a Supplement: Volume 8 Supplement 1

  22. Although markers identified by genome-wide association studies have individually strong statistical significance, their performance in prediction remains limited. Our goal was to use animal breeding genomic pr...

    Authors: Chen Yao, Ning Leng, Kent A Weigel, Kristine E Lee, Corinne D Engelman and Kristin J Meyers
    Citation: BMC Proceedings 2014 8(Suppl 1):S68
    Content type: Proceedings Published on:

    This article is part of a Supplement: Volume 8 Supplement 1

  23. The concept of breeding values, an individual's phenotypic deviation from the population mean as a result of the sum of the average effects of the genes they carry, is of great importance in livestock, aquacul...

    Authors: Ellen E Quillen, V Saroja Voruganti, Geetha Chittoor, Rohina Rubicz, Juan M Peralta, Marcio AA Almeida, Jack W Kent Jr, Vincent P Diego, Thomas D Dyer, Anthony G Comuzzie, Harald HH Göring, Ravindranath Duggirala, Laura Almasy and John Blangero
    Citation: BMC Proceedings 2014 8(Suppl 1):S66
    Content type: Proceedings Published on:

    This article is part of a Supplement: Volume 8 Supplement 1

  24. Genome-wide association studies have successfully identified common variants that are associated with complex diseases. However, the majority of genetic variants contributing to disease susceptibility are yet ...

    Authors: Guan-Hua Huang and Yi-Chi Tseng
    Citation: BMC Proceedings 2014 8(Suppl 1):S64
    Content type: Proceedings Published on:

    This article is part of a Supplement: Volume 8 Supplement 1

  25. Environment has long been known to play an important part in disease etiology. However, not many genome-wide association studies take environmental factors into consideration. There is also a need for new meth...

    Authors: Maggie Haitian Wang, Chien-Hsun Huang, Tian Zheng, Shaw-Hwa Lo and Inchi Hu
    Citation: BMC Proceedings 2014 8(Suppl 1):S62
    Content type: Proceedings Published on:

    This article is part of a Supplement: Volume 8 Supplement 1

  26. It is believed that almost all common diseases are the consequence of complex interactions between genetic markers and environmental factors. However, few such interactions have been documented to date. Conven...

    Authors: Ruixue Fan, Chien-Hsun Huang, Inchi Hu, Haitian Wang, Tian Zheng and Shaw-Hwa Lo
    Citation: BMC Proceedings 2014 8(Suppl 1):S60
    Content type: Proceedings Published on:

    This article is part of a Supplement: Volume 8 Supplement 1

  27. For almost all complex traits studied in humans, the identified genetic variants discovered to date have accounted for only a small portion of the estimated trait heritability. Consequently, several methods ha...

    Authors: Asuman S Turkmen and Shili Lin
    Citation: BMC Proceedings 2014 8(Suppl 1):S58
    Content type: Proceedings Published on:

    This article is part of a Supplement: Volume 8 Supplement 1

  28. Rare variants have been proposed to play a significant role in the onset and development of common diseases. However, traditional analysis methods have difficulties in detecting association signals for rare ca...

    Authors: Tian-Xiao Zhang, Yi-Ran Xie and John P Rice
    Citation: BMC Proceedings 2014 8(Suppl 1):S53
    Content type: Proceedings Published on:

    This article is part of a Supplement: Volume 8 Supplement 1

  29. Although many genetic factors have been successfully identified for human diseases in genome-wide association studies, genes discovered to date only account for a small proportion of overall genetic contributi...

    Authors: Li Yang, Jing Xuan and Zheyang Wu
    Citation: BMC Proceedings 2014 8(Suppl 1):S51
    Content type: Proceedings Published on:

    This article is part of a Supplement: Volume 8 Supplement 1

  30. We propose a novel variance component approach for the analysis of next-generation sequencing data. Our method is based on the detection of the proportion of the trait phenotypic variance that can be explained...

    Authors: Juan M Peralta, Marcio Almeida, Jack W Kent Jr and John Blangero
    Citation: BMC Proceedings 2014 8(Suppl 1):S49
    Content type: Proceedings Published on:

    This article is part of a Supplement: Volume 8 Supplement 1

  31. Current sequencing technology enables generation of whole genome sequencing data sets that contain a high density of rare variants, each of which is carried by, at most, 5% of the sampled subjects. Such varian...

    Authors: Ying Liu, ChienHsun Huang, Inchi Hu, Shaw-Hwa Lo and Tian Zheng
    Citation: BMC Proceedings 2014 8(Suppl 1):S47
    Content type: Proceedings Published on:

    This article is part of a Supplement: Volume 8 Supplement 1

    The Erratum to this article has been published in BMC Proceedings 2014 8:S112

  32. The primary goal of genome-wide association studies is to determine which genetic markers are associated with genetic traits, most commonly human diseases. As a result of the "large p, small n" nature of genome-w...

    Authors: Ian Johnston and Luis E Carvalho
    Citation: BMC Proceedings 2014 8(Suppl 1):S45
    Content type: Proceedings Published on:

    This article is part of a Supplement: Volume 8 Supplement 1

  33. Under the premise that multiple causal variants exist within a disease gene and that we are underpowered to detect these variants individually, a variety of methods have been developed that attempt to cluster ...

    Authors: Kristin L Ayers and Heather J Cordell
    Citation: BMC Proceedings 2014 8(Suppl 1):S43
    Content type: Proceedings Published on:

    This article is part of a Supplement: Volume 8 Supplement 1

  34. The kernel score statistic is a global covariance component test over a set of genetic markers. It provides a flexible modeling framework and does not collapse marker information. We generalize the kernel scor...

    Authors: Dörthe Malzahn, Stefanie Friedrichs, Albert Rosenberger and Heike Bickeböller
    Citation: BMC Proceedings 2014 8(Suppl 1):S41
    Content type: Proceedings Published on:

    This article is part of a Supplement: Volume 8 Supplement 1

  35. In this study, we analyze the Genetic Analysis Workshop 18 data to identify the genes and underlying single-nucleotide polymorphisms on 11 chromosomes that exhibit significant association with systolic blood p...

    Authors: Liang He and Janne M Pitkäniemi
    Citation: BMC Proceedings 2014 8(Suppl 1):S37
    Content type: Proceedings Published on:

    This article is part of a Supplement: Volume 8 Supplement 1

  36. The genetic variants associated with blood pressure identified so far explain only a small proportion of the total heritability of this trait. With recent advances in sequencing technology and statistical meth...

    Authors: Han Chen, Seung Hoan Choi, Jaeyoung Hong, Chen Lu, Jacqueline N Milton, Catherine Allard, Sean M Lacey, Honghuang Lin and Josée Dupuis
    Citation: BMC Proceedings 2014 8(Suppl 1):S35
    Content type: Proceedings Published on:

    This article is part of a Supplement: Volume 8 Supplement 1

  37. The revolution in next-generation sequencing has made obtaining both common and rare high-quality sequence variants across the entire genome feasible. Because researchers are now faced with the analytical chal...

    Authors: Jin J Zhou, Wai-Ki Yip, Michael H Cho, Dandi Qiao, Merry-Lynn N McDonald and Nan M Laird
    Citation: BMC Proceedings 2014 8(Suppl 1):S33
    Content type: Proceedings Published on:

    This article is part of a Supplement: Volume 8 Supplement 1

  38. The application of family-based tests to whole-genome sequenced data provides a new window on the role of rare variant alleles in the etiology of disease. By applying family-based tests to these data, we can n...

    Authors: Mengyuan Xu, Harold Z Wang, Wei Guo, Haide Qin and Yin Y Shugart
    Citation: BMC Proceedings 2014 8(Suppl 1):S31
    Content type: Proceedings Published on:

    This article is part of a Supplement: Volume 8 Supplement 1

  39. Because the genotype-phenotype correlation information is investigated differently by linkage and association analyses, various efforts have been made to model linkage and association jointly. However, joint m...

    Authors: Yi Li, Jia Nee Foo, Herty Liany, Hui-Qi Low and Jianjun Liu
    Citation: BMC Proceedings 2014 8(Suppl 1):S29
    Content type: Proceedings Published on:

    This article is part of a Supplement: Volume 8 Supplement 1

  40. We apply a family-based extension of the sequence kernel association test (SKAT) to 93 trios extracted from the 20 pedigrees in the Genetic Analysis Workshop 18 simulated data. Each extracted trio includes a u...

    Authors: Jing Huang, Yong Chen, Michael D Swartz and Iuliana Ionita-Laza
    Citation: BMC Proceedings 2014 8(Suppl 1):S27
    Content type: Proceedings Published on:

    This article is part of a Supplement: Volume 8 Supplement 1

  41. Large-scale genetic studies are often composed of related participants, and utilizing familial relationships can be cumbersome and computationally challenging. We present an approach to efficiently handle sequ...

    Authors: Xiuhua Ding, Shaoyong Su, Kannabiran Nandakumar, Xiaoling Wang and David W Fardo
    Citation: BMC Proceedings 2014 8(Suppl 1):S25
    Content type: Proceedings Published on:

    This article is part of a Supplement: Volume 8 Supplement 1

  42. Pedigree errors and cryptic relatedness often appear in families or population samples collected for genetic studies. If not identified, these issues can lead to either increased false negatives or false posit...

    Authors: Lei Sun and Apostolos Dimitromanolakis
    Citation: BMC Proceedings 2014 8(Suppl 1):S23
    Content type: Proceedings Published on:

    This article is part of a Supplement: Volume 8 Supplement 1

  43. Although the technical and analytic complexity of whole genome sequencing is generally appreciated, best practices for data cleaning and quality control have not been defined. Family based data can be used to ...

    Authors: Valentina V Pilipenko, Hua He, Brad G Kurowski, Eileen S Alexander, Xue Zhang, Lili Ding, Tesfaye B Mersha, Leah Kottyan, David W Fardo and Lisa J Martin
    Citation: BMC Proceedings 2014 8(Suppl 1):S21
    Content type: Proceedings Published on:

    This article is part of a Supplement: Volume 8 Supplement 1

  44. We demonstrate the flexibility of identity-by-descent (IBD) graphs for genotype imputation and testing relationships between genotype and phenotype. We analyzed chromosome 3 and the first replicate of simulate...

    Authors: Elizabeth Marchani Blue, Charles YK Cheung, Christopher G Glazner, Matthew P Conomos, Steven M Lewis, Serge Sverdlov, Timothy Thornton and Ellen M Wijsman
    Citation: BMC Proceedings 2014 8(Suppl 1):S19
    Content type: Proceedings Published on:

    This article is part of a Supplement: Volume 8 Supplement 1

  45. The ideal genetic analysis of family data would include whole genome sequence on all family members. A strategy of combining sequence data from a subset of key individuals with inexpensive, genome-wide associa...

    Authors: Anthony L Hinrichs, Robert C Culverhouse and Brian K Suarez
    Citation: BMC Proceedings 2014 8(Suppl 1):S17
    Content type: Proceedings Published on:

    This article is part of a Supplement: Volume 8 Supplement 1

  46. Because of low statistical power of single-variant tests for whole genome sequencing (WGS) data, the association test for variant groups is a key approach for genetic mapping. To address the features of sparse...

    Authors: Jing Xuan, Li Yang and Zheyang Wu
    Citation: BMC Proceedings 2014 8(Suppl 1):S14
    Content type: Proceedings Published on:

    This article is part of a Supplement: Volume 8 Supplement 1

  47. Analysis of longitudinal family data is challenging because of 2 sources of correlations: correlations across longitudinal measurements and correlations among related individuals. We investigated whether analy...

    Authors: Yun Ju Sung, Jacob Basson and Dabeeru C Rao
    Citation: BMC Proceedings 2014 8(Suppl 1):S12
    Content type: Proceedings Published on:

    This article is part of a Supplement: Volume 8 Supplement 1

  48. Sequence kernel association test (SKAT) has become one of the most commonly used nonburden tests for analyzing rare variants. Performance of burden tests depends on the weighting of rare and common variants wh...

    Authors: Cates Mallaney and Yun Ju Sung
    Citation: BMC Proceedings 2014 8(Suppl 1):S10
    Content type: Proceedings Published on:

    This article is part of a Supplement: Volume 8 Supplement 1

  49. Admixture mapping and association testing have been successfully applied to the detection of genes for complex diseases. Methods have also been developed to combine these approaches. As an initial step to dete...

    Authors: Daniel Yorgov, Karen L Edwards and Stephanie A Santorico
    Citation: BMC Proceedings 2014 8(Suppl 1):S6
    Content type: Proceedings Published on:

    This article is part of a Supplement: Volume 8 Supplement 1

  50. Cryptic population structure can increase both type I and type II errors. This is particularly problematic in case-control association studies of unrelated individuals. Some researchers believe that these prob...

    Authors: Robert C Culverhouse, Anthony L Hinrichs and Brian K Suarez
    Citation: BMC Proceedings 2014 8(Suppl 1):S4
    Content type: Proceedings Published on:

    This article is part of a Supplement: Volume 8 Supplement 1

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