Volume 5 Supplement 9

Genetic Analysis Workshop 17: Unraveling Human Exome Data

Proceedings

Edited by S Ghosh, H Bickeböller, J Bailey, JE Bailey-Wilson, R Cantor, W Daw, AL DeStefano, CD Engelman, A Hinrichs, J Houwing-Duistermaat, IR König, J Kent Jr., N Pankratz, A Paterson, E Pugh, Y Sun, A Thomas, N Tintle, X Zhu, JW MacCluer and L Almasy

Genetic Analysis Workshop 17. Go to conference site.

Boston, MA, USA

13-16 October 2010

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  1. Proceedings

    Identifying rare variants from exome scans: the GAW17 experience

    Genetic Analysis Workshop 17 (GAW17) provided a platform for evaluating existing statistical genetic methods and for developing novel methods to analyze rare variants that modulate complex traits. In this arti...

    Saurabh Ghosh, Heike Bickeböller, Julia Bailey, Joan E Bailey-Wilson, Rita Cantor, Robert Culverhouse, Warwick Daw, Anita L DeStefano, Corinne D Engelman, Anthony Hinrichs, Jeanine Houwing-Duistermaat, Inke R König, Jack Kent, Nan Laird, Nathan Pankratz, Andrew Paterson…

    BMC Proceedings 2011 5(Suppl 9):S1

    Published on: 29 November 2011

  2. Proceedings

    Genetic Analysis Workshop 17 mini-exome simulation

    The data set simulated for Genetic Analysis Workshop 17 was designed to mimic a subset of data that might be produced in a full exome screen for a complex disorder and related risk factors in order to permit w...

    Laura Almasy, Thomas D Dyer, Juan Manuel Peralta, Jack W Kent, Jac C Charlesworth, Joanne E Curran and John Blangero

    BMC Proceedings 2011 5(Suppl 9):S2

    Published on: 29 November 2011

  3. Proceedings

    A gene-based approach for testing association of rare alleles

    Rare genetic variants have been shown to be important to the susceptibility of common human diseases. Methods for detecting association of rare genetic variants are drawing much attention. In this report, we a...

    Hongyan Xu and Varghese George

    BMC Proceedings 2011 5(Suppl 9):S7

    Published on: 29 November 2011

  4. Proceedings

    Population structure analysis using rare and common functional variants

    Next-generation sequencing technologies now make it possible to genotype and measure hundreds of thousands of rare genetic variations in individuals across the genome. Characterization of high-density genetic ...

    Tesfaye M Baye, Hua He, Lili Ding, Brad G Kurowski, Xue Zhang and Lisa J Martin

    BMC Proceedings 2011 5(Suppl 9):S8

    Published on: 29 November 2011

  5. Proceedings

    Detection of associations with rare and common SNPs for quantitative traits: a nonparametric Bayes-based approach

    We propose a nonparametric Bayes-based clustering algorithm to detect associations with rare and common single-nucleotide polymorphisms (SNPs) for quantitative traits. Unlike current methods, our approach iden...

    Lili Ding, Tesfaye M Baye, Hua He, Xue Zhang, Brad G Kurowski and Lisa J Martin

    BMC Proceedings 2011 5(Suppl 9):S10

    Published on: 29 November 2011

  6. Proceedings

    Identification of functional genetic variation in exome sequence analysis

    Recent technological advances have allowed us to study individual genomes at a base-pair resolution and have demonstrated that the average exome harbors more than 15,000 genetic variants. However, our ability ...

    Andrew Jaffe, Genevieve Wojcik, Audrey Chu, Asieh Golozar, Ankit Maroo, Priya Duggal and Alison P Klein

    BMC Proceedings 2011 5(Suppl 9):S13

    Published on: 29 November 2011

  7. Proceedings

    Comparison of results from tests of association in unrelated individuals with uncollapsed and collapsed sequence variants using tiled regression

    Tiled regression is an approach designed to determine the set of independent genetic variants that contribute to the variation of a quantitative trait in the presence of many highly correlated variants. In thi...

    Heejong Sung, Yoonhee Kim, Juanliang Cai, Cheryl D Cropp, Claire L Simpson, Qing Li, Brian C Perry, Alexa JM Sorant, Joan E Bailey-Wilson and Alexander F Wilson

    BMC Proceedings 2011 5(Suppl 9):S15

    Published on: 29 November 2011

  8. Proceedings

    Identifying rare disease variants in the Genetic Analysis Workshop 17 simulated data: a comparison of several statistical approaches

    Genome-wide association studies have been successful at identifying common disease variants associated with complex diseases, but the common variants identified have small effect sizes and account for only a s...

    Ruixue Fan, Chien-Hsun Huang, Shaw-Hwa Lo, Tian Zheng and Iuliana Ionita-Laza

    BMC Proceedings 2011 5(Suppl 9):S17

    Published on: 29 November 2011

  9. Proceedings

    Pathway analysis following association study

    Genome-wide association studies often emphasize single-nucleotide polymorphisms with the smallest p-values with less attention given to single-nucleotide polymorphisms not ranked near the top. We suggest that gen...

    Julius S Ngwa, Alisa K Manning, Jonna L Grimsby, Chen Lu, Wei V Zhuang and Anita L DeStefano

    BMC Proceedings 2011 5(Suppl 9):S18

    Published on: 29 November 2011

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