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, USA

13-17 October 2012

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  1. Proceedings

    Genetic Analysis Workshop 18: Methods and strategies for analyzing human sequence and phenotype data in members of extended pedigrees

    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 ...

    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…

    BMC Proceedings 2014 8(Suppl 1):S1

    Published on: 17 June 2014

  2. Proceedings

    Data for Genetic Analysis Workshop 18: human whole genome sequence, blood pressure, and simulated phenotypes in extended pedigrees

    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...

    Laura Almasy, Thomas D Dyer, Juan M Peralta, Goo Jun, Andrew R Wood, Christian Fuchsberger, Marcio A Almeida, Jack W Kent, Sharon Fowler, Tom W Blackwell, Sobha Puppala, Satish Kumar, Joanne E Curran, Donna Lehman, Goncalo Abecasis, Ravindranath Duggirala…

    BMC Proceedings 2014 8(Suppl 1):S2

    Published on: 17 June 2014

  3. Proceedings

    Admixture mapping analysis in the context of GWAS with GAW18 data

    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 ...

    Mengjie Chen, Can Yang, Cong Li, Lin Hou, Xiaowei Chen and Hongyu Zhao

    BMC Proceedings 2014 8(Suppl 1):S3

    Published on: 17 June 2014

  4. Proceedings

    Estimating and adjusting for ancestry admixture in statistical methods for relatedness inference, heritability estimation, and association testing

    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...

    Timothy Thornton, Matthew P Conomos, Serge Sverdlov, Elizabeth M Blue, Charles YK Cheung, Christopher G Glazner, Steven M Lewis and Ellen M Wijsman

    BMC Proceedings 2014 8(Suppl 1):S5

    Published on: 17 June 2014

  5. Proceedings

    Use of admixture and association for detection of quantitative trait loci in the Type 2 Diabetes Genetic Exploration by Next-Generation Sequencing in Ethnic Samples (T2D-GENES) study

    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...

    Daniel Yorgov, Karen L Edwards and Stephanie A Santorico

    BMC Proceedings 2014 8(Suppl 1):S6

    Published on: 17 June 2014

  6. Proceedings

    Considering interactive effects in the identification of influential regions with extremely rare variants via fixed bin approach

    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...

    Michael Agne, Chien-Hsun Huang, Inchi Hu, Haitian Wang, Tian Zheng and Shaw-Hwa Lo

    BMC Proceedings 2014 8(Suppl 1):S7

    Published on: 17 June 2014

  7. Proceedings

    A comparison of two collapsing methods in different approaches

    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...

    Carmen Dering, Arne Schillert, Inke R König and Andreas Ziegler

    BMC Proceedings 2014 8(Suppl 1):S8

    Published on: 17 June 2014

  8. Proceedings

    Genetic Analysis Workshop 18 single-nucleotide variant prioritization based on protein impact, sequence conservation, and gene annotation

    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...

    Thomas Nalpathamkalam, Andriy Derkach, Andrew D Paterson and Daniele Merico

    BMC Proceedings 2014 8(Suppl 1):S11

    Published on: 17 June 2014

  9. Proceedings

    Whole genome sequence analysis of the simulated systolic blood pressure in Genetic Analysis Workshop 18 family data: long-term average and collapsing methods

    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...

    Yun Ju Sung, Jacob Basson and Dabeeru C Rao

    BMC Proceedings 2014 8(Suppl 1):S12

    Published on: 17 June 2014

  10. Proceedings

    Small sample properties of rare variant analysis methods

    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...

    Michael D Swartz, Taebeom Kim, Jiangong Niu, Robert K Yu, Sanjay Shete and Iuliana Ionita-Laza

    BMC Proceedings 2014 8(Suppl 1):S13

    Published on: 17 June 2014

  11. Proceedings

    Imputation in families using a heuristic phasing approach

    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...

    August N Blackburn, Angela K Dean and Donna M Lehman

    BMC Proceedings 2014 8(Suppl 1):S16

    Published on: 17 June 2014

  12. Proceedings

    Genotypic discrepancies arising from imputation

    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...

    Anthony L Hinrichs, Robert C Culverhouse and Brian K Suarez

    BMC Proceedings 2014 8(Suppl 1):S17

    Published on: 17 June 2014

  13. Proceedings

    Identity-by-descent graphs offer a flexible framework for imputation and both linkage and association analyses

    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...

    Elizabeth Marchani Blue, Charles YK Cheung, Christopher G Glazner, Matthew P Conomos, Steven M Lewis, Serge Sverdlov, Timothy Thornton and Ellen M Wijsman

    BMC Proceedings 2014 8(Suppl 1):S19

    Published on: 17 June 2014

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