Characterizing polymorphisms and allelic diversity of von Willebrand factor gene in the 1000 Genomes
Article first published online: 7 FEB 2013
© 2012 International Society on Thrombosis and Haemostasis
Journal of Thrombosis and Haemostasis
Volume 11, Issue 2, pages 261–269, February 2013
How to Cite
Characterizing polymorphisms and allelic diversity of von Willebrand factor gene in the 1000 Genomes. J Thromb Haemost 2013; 11: 261–9., , , , , .
- Issue published online: 7 FEB 2013
- Article first published online: 7 FEB 2013
- Accepted manuscript online: 8 DEC 2012 04:03AM EST
- Manuscript Accepted: 21 NOV 2012
- Manuscript Received: 2 AUG 2012
- National Institute of Health
Figure S1. Nucleotide diversity in intronic regions: we divided the introns into nine blocks, according to their locations flanking exons that encode specific domains.
Figure S2. Principle component analysis of variant frequencies: subjects from 13 ethnicities (IBS was excluded due to a much smaller sample size of 14 subjects) were grouped according to continents and analyzed.
Figure S3. VWF LD-plots for subjects from four continents: LD-plots were constructed using the Haploview program based on settings specified in the method.
Figure S4. VWF LD-plots for each ethnicity from Europe: LD-plots were constructed using the Haploview program based on settings specified in the method.
Figure S5. VWF LD-plots for each ethnicity from Africa: LD-plots were constructed using the sample setting criteria defined for European subjects.
Table S1. Number of samples from 14 ethnicities* from four populations from the 1000G.
Table S2. Chromosomal location, predicted impact and frequency of variants in the coding sequence of the VWF gene for subjects from four continents.
Table S3. Description and sources of VWF variants previously associated with VWD.
Table S4. The nucleotide diversity statistic in VWF domains.
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