A design study to identify inconsistencies in kinship information: The case of the 1000 Genomes project

Research output: Chapter in Book/Report/Conference proceedingConference contribution

1 Citation (Scopus)

Abstract

Genome Wide Association Studies (GWAS) examine genetic variants in different individuals to detect variants associated to specific diseases. The 1000 Genomes project is such a collaborative research effort to sequence the genomes of at least 1000 participants of 26 different ethnicities, to establish a detailed summary of human genetic variation. The kinship information is a measure of individuals ancestor relationships within the considered populations. We study the design of kinship data visualizations allowing the experts to discover anomalies in GWAS data. The visual analysis of the 1000 Genomes Project kinship data reveals inconsistencies which call for a deeper analysis of the data quality within this project.

Original languageEnglish
Title of host publication2016 IEEE Pacific Visualization Symposium, PacificVis 2016 - Proceedings
PublisherIEEE Computer Society
Pages254-258
Number of pages5
Volume2016-May
ISBN (Electronic)9781509014514
DOIs
Publication statusPublished - 4 May 2016
Event9th IEEE Pacific Visualization Symposium, PacificVis 2016 - Taipei, Taiwan, Province of China
Duration: 19 Apr 201622 Apr 2016

Other

Other9th IEEE Pacific Visualization Symposium, PacificVis 2016
CountryTaiwan, Province of China
CityTaipei
Period19/4/1622/4/16

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ASJC Scopus subject areas

  • Computer Graphics and Computer-Aided Design
  • Computer Vision and Pattern Recognition
  • Hardware and Architecture
  • Software

Cite this

Aupetit, M., Ullah, E., Rawi, R., & Bensmail, H. (2016). A design study to identify inconsistencies in kinship information: The case of the 1000 Genomes project. In 2016 IEEE Pacific Visualization Symposium, PacificVis 2016 - Proceedings (Vol. 2016-May, pp. 254-258). [7465281] IEEE Computer Society. https://doi.org/10.1109/PACIFICVIS.2016.7465281