This dataset contains key characteristics about the data described in the Data Descriptor Linkage Disequilibrium Maps for European and African Populations Constructed from Whole Genome Sequence Data.
Contents:
1. human readable metadata summary table in CSV format 2. machine readable metadata file in JSON format

Versioning Note:Version 2 was generated when the metadata format was updated from JSON to JSON-LD. This was an automatic process that changed only the format, not the contents, of the metadata.

In the accompanying paper, an autosomal dominant disease characterized by cold-induced urticarial rash and systemic inflammation is described. The disease is associated with a mutation in the human coagulation Factor 12 gene (F12), and the term FXII-associated cold autoinflammatory syndrome (FACAS) is proposed to denote it. Functional studies show autocatalytic cleavage of FXII and profound activation of the contact system linked to IL-1ß-mediated inflammation.
The dataset presented here contains source data and images that underlie the main and supplementary figures included in the accompanying paper. Data are provided as a combination of Excel XLSX files, images with labelling prepared in PowerPoint (PPTX files) and a TIF image.
Figure 2fig2a.pptx - Immunoblot gel image underlying Figure 2a.fig2b.pptx - Immunoblot gel image underlying Figure 2b.fig2c MassSpec raw data - FXII peptides in gel.xlsx - Raw mass spectrometry data from excised gel fragments, underlying Figure 2c.fig2d FXIIa Chromogenic.xlsx - Results of the chromogenic assay underlying Figure 2d.fig2e FXIIa Chromogenic.xlsx - Results of the chromogenic assay underlying Figure 2e.
Figure 3fig3a.pptx - Immunoblot gel underlying Figure 3a.fig3c PK ELISA.xls - ELISA results measuring plasma prekallikrein, underlying Figure 3c.fig3d,e enzyme-C1-INH complexes ELISA.xlsx - ELISA results measuring FXIIa-C1INH and PK-C1-INH complexes in plasma, underlying Figure 3d and 3e.fig3f.pptx - Immunoblot gel image underlying Figure 3f.fig3g cHMWK Chromogenic.xlsx - Results of the chromogenic assay measuring cHMWK activity, underlying Figure 3g.fig3h BK ELISA.xls - ELISA results measuring bradykinin plasma levels, underlying Figure 3h.
Figure 4fig4b count_analysis neutrophils.xlsx - Neutrophil counts from lesional skin of a FACAS patient, stained for myeloperoxidase and α-FXIIa heavy chain.fig4b Image J example_FACAS_rgb.tif - Example ImageJ analysis, representative of Figure 4b.fig4c IL-8 ELISA.xls - ELISA results measuring monocyte IL-8 secretion, underlying Figure 4c.
Figure 5fig5a IL-1ß ELISA.xls - ELISA results underlying Figure 5a.fig5b IL-1ß ELISA.xls - ELISA results underlying Figure 5b.fig5c IL-1ß ELISA.xls - ELISA results underlying Figure 5c.
Supplementary FiguresfigSupplementary1 FXII ELISA.xlsx - ELISA results comparing plasma FXII levels from FACAS plasma versus healthy control, underlying Supplementary Figure 1.figSupplementary2.pptx - Immunoblot gel image underlying Supplementary Figure 2.figSupplementary4 IL-1ß ELISA.xlsx - ELISA results underlying Supplementary Figure 4.

In the accompanying paper, an autosomal dominant disease characterized by cold-induced urticarial rash and systemic inflammation is described. The disease is associated with a mutation in the human coagulation Factor 12 gene (F12), and the term FXII-associated cold autoinflammatory syndrome (FACAS) is proposed to denote it. Functional studies show autocatalytic cleavage of FXII and profound activation of the contact system linked to IL-1ß-mediated inflammation.
The dataset presented here contains source data and images that underlie the main and supplementary figures included in the accompanying paper. Data are provided as a combination of Excel XLSX files, images with labelling prepared in PowerPoint (PPTX files) and a TIF image.
Figure 2fig2a.pptx - Immunoblot gel image underlying Figure 2a.fig2b.pptx - Immunoblot gel image underlying Figure 2b.fig2c MassSpec raw data - FXII peptides in gel.xlsx - Raw mass spectrometry data from excised gel fragments, underlying Figure 2c.fig2d FXIIa Chromogenic.xlsx - Results of the chromogenic assay underlying Figure 2d.fig2e FXIIa Chromogenic.xlsx - Results of the chromogenic assay underlying Figure 2e.
Figure 3fig3a.pptx - Immunoblot gel underlying Figure 3a.fig3c PK ELISA.xls - ELISA results measuring plasma prekallikrein, underlying Figure 3c.fig3d,e enzyme-C1-INH complexes ELISA.xlsx - ELISA results measuring FXIIa-C1INH and PK-C1-INH complexes in plasma, underlying Figure 3d and 3e.fig3f.pptx - Immunoblot gel image underlying Figure 3f.fig3g cHMWK Chromogenic.xlsx - Results of the chromogenic assay measuring cHMWK activity, underlying Figure 3g.fig3h BK ELISA.xls - ELISA results measuring bradykinin plasma levels, underlying Figure 3h.
Figure 4fig4b count_analysis neutrophils.xlsx - Neutrophil counts from lesional skin of a FACAS patient, stained for myeloperoxidase and α-FXIIa heavy chain.fig4b Image J example_FACAS_rgb.tif - Example ImageJ analysis, representative of Figure 4b.fig4c IL-8 ELISA.xls - ELISA results measuring monocyte IL-8 secretion, underlying Figure 4c.
Figure 5fig5a IL-1ß ELISA.xls - ELISA results underlying Figure 5a.fig5b IL-1ß ELISA.xls - ELISA results underlying Figure 5b.fig5c IL-1ß ELISA.xls - ELISA results underlying Figure 5c.
Supplementary FiguresfigSupplementary1 FXII ELISA.xlsx - ELISA results comparing plasma FXII levels from FACAS plasma versus healthy control, underlying Supplementary Figure 1.figSupplementary2.pptx - Immunoblot gel image underlying Supplementary Figure 2.figSupplementary4 IL-1ß ELISA.xlsx - ELISA results underlying Supplementary Figure 4.

This dataset contains key characteristics about the data described in the Data Descriptor Linkage Disequilibrium Maps for European and African Populations Constructed from Whole Genome Sequence Data.
Contents:
1. human readable metadata summary table in CSV format 2. machine readable metadata file in JSON format

Versioning Note:Version 2 was generated when the metadata format was updated from JSON to JSON-LD. This was an automatic process that changed only the format, not the contents, of the metadata.

This dataset contains key characteristics about the data described in the Data Descriptor Linkage Disequilibrium Maps for European and African Populations Constructed from Whole Genome Sequence Data.
Contents:
1. human readable metadata summary table in CSV format 2. machine readable metadata file in JSON format

These data are in Browser Extensible Data (BED) format, including the cumulative LDU position of every SNP marker within the generated maps. Additionally, these data are also made available as the kb/LDU ratio for each inter-SNP span providing a view of the regional 'intensity' of LD. These files are compatible with many commonly used genomic analysis tools.

These data are in Browser Extensible Data (BED) format, including the cumulative LDU position of every SNP marker within the generated maps. Additionally, these data are also made available as the kb/LDU ratio for each inter-SNP span providing a view of the regional 'intensity' of LD. These files are compatible with many commonly used genomic analysis tools.

No description available