Volume 8 Supplement 1
Genetic Analysis Workshop 18: Human sequence data in extended pedigrees
Proceedings
Edited by H Bickeböller, JN Bailey, J Beyene, RM Cantor, HJ Cordell, RC Culverhouse, CD Engelman, DW Fardo, S Ghosh, IR König, J Lorenzo Bermejo, PE Melton, SA Santorico, GA Satten, L Sun, NL Tintle, A Ziegler, JW MacCluer and L Almasy
Publication charges for this supplement were funded by the Texas Biomedical Research Institute. Articles have undergone the journal's standard review process for supplements. AZ received intramural funding from the University of Lübeck, Germany. The remaining Supplement Editors declare that they have no competing interests.
Genetic Analysis Workshop 18. Go to
conference site.
Stevenson, WA, USA13-17 October 2012
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Content type: Proceedings
Genetic Analysis Workshop 18 provided a platform for developing and evaluating statistical methods to analyze whole-genome sequence data from a pedigree-based sample. In this article we present an overview of ...
Authors: Heike Bickeböller, Julia N Bailey, Joseph Beyene, Rita M Cantor, Heather J Cordell, Robert C Culverhouse, Corinne D Engelman, David W Fardo, Saurabh Ghosh, Inke R König, Justo Lorenzo Bermejo, Phillip E Melton, Stephanie A Santorico, Glen A Satten, Lei Sun, Nathan L Tintle…
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Content type: Proceedings
Genetic Analysis Workshop 18 (GAW18) focused on identification of genes and functional variants that influence complex phenotypes in human sequence data. Data for the workshop were donated by the T2D-GENES Con...
Authors: Laura Almasy, Thomas D Dyer, Juan M Peralta, Goo Jun, Andrew R Wood, Christian Fuchsberger, Marcio A Almeida, Jack W Kent Jr, Sharon Fowler, Tom W Blackwell, Sobha Puppala, Satish Kumar, Joanne E Curran, Donna Lehman, Goncalo Abecasis, Ravindranath Duggirala…
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Content type: Proceedings
Admixture mapping is a disease-mapping strategy to identify disease susceptibility variants in an admixed population that is a result of mating between 2 historically separated populations differing in allele ...
Authors: Mengjie Chen, Can Yang, Cong Li, Lin Hou, Xiaowei Chen and Hongyu Zhao
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Content type: Proceedings
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
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Content type: Proceedings
It is well known that genetic association studies are not robust to population stratification. Two widely used approaches for the detection and correction of population structure are principal component analys...
Authors: Timothy Thornton, Matthew P Conomos, Serge Sverdlov, Elizabeth M Blue, Charles YK Cheung, Christopher G Glazner, Steven M Lewis and Ellen M Wijsman
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Content type: Proceedings
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
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Content type: Proceedings
In this study, we analyze the Genetic Analysis Workshop 18 (GAW18) data to identify regions of single-nucleotide polymorphisms (SNPs), which significantly influence hypertension status among individuals. We ha...
Authors: Michael Agne, Chien-Hsun Huang, Inchi Hu, Haitian Wang, Tian Zheng and Shaw-Hwa Lo
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Content type: Proceedings
Sequencing technologies have enabled the investigation of whole genomes of many individuals in parallel. Studies have shown that the joint consideration of multiple rare variants may explain a relevant proport...
Authors: Carmen Dering, Arne Schillert, Inke R König and Andreas Ziegler
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Content type: Proceedings
The focus of our work is to evaluate several recently developed pooled association tests for rare variants and assess the impact of different gene annotation methods and binning strategies on the analyses of r...
Authors: Andriy Derkach, Jerry F Lawless, Daniele Merico, Andrew D Paterson and Lei Sun
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Content type: Proceedings
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
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Content type: Proceedings
Grouping variants based on gene mapping can augment the power of rare variant association tests. Weighting or sorting variants based on their expected functional impact can provide additional benefit. We defin...
Authors: Thomas Nalpathamkalam, Andriy Derkach, Andrew D Paterson and Daniele Merico
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Content type: Proceedings
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
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Content type: Proceedings
We are now well into the sequencing era of genetic analysis, and methods to investigate rare variants associated with disease remain in high demand. Currently, the more common rare variant analysis methods are...
Authors: Michael D Swartz, Taebeom Kim, Jiangong Niu, Robert K Yu, Sanjay Shete and Iuliana Ionita-Laza
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Content type: Proceedings
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
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Content type: Proceedings
Homozygosity disequilibrium (HD), a nonrandom sizable run of homozygosity in the genome, may be related to the evolution of populations and may also confer susceptibility to disease. No studies have investigat...
Authors: Hsin-Chou Yang and Han-Wei Li
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Content type: Proceedings
Whole genome sequencing (WGS) remains prohibitively expensive, which has encouraged the development of methods to impute WGS data into nonsequenced individuals using a framework of single nucleotide polymorphi...
Authors: August N Blackburn, Angela K Dean and Donna M Lehman
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Content type: Proceedings
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
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Content type: Proceedings
We derive the analytical mean and variance of the score test statistic in gene-dropping simulations and approximate the null distribution of the test statistic by a normal distribution. We provide insights int...
Authors: Yuan Jiang, Sarah Emerson, Lu Wang, Lujing Li and Yanming Di
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Content type: Proceedings
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
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Content type: Proceedings
We developed a general framework for family-based imputation using single-nucleotide polymorphism data and sequence data distributed by Genetic Analysis Workshop 18. By using PedIBD, we first inferred haplotyp...
Authors: Sunah Song, Robert Shields, Xin Li and Jing Li
