Accession Number:



Rare Variants in Systemic Sclerosis (SSc, Scleroderma)

Descriptive Note:

Technical Report,15 Aug 2018,14 Aug 2019

Corporate Author:

University of Texas Health Science Center Houston United States

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The subjecttopic area of this research is Systemic Sclerosis SSc, Scleroderma. The purpose of the research is to identify genetic variants that contribute to SSc disease susceptibility and influence outcome. The approach involves whole genome sequencing of 100 trios 300 individuals including affected case and both parents. Previous Genome-Wide-Association-Studies GWAS have identified gene regions that are associated with disease but the majority of these are in non-coding areas so the impact of these variants is unclear. This study will identify rare variants both inherited and de novo mutations and will analyze these mutations according to the role they likely plan in disease pathogenesis. The immediate outcome of this project will be identification of the causal variants in multiple pathways associated with SSc susceptibility with the long-range impact will be the identification of the role these variants plan in disease causation and severityoutcome.

Subject Categories:

  • Medicine and Medical Research

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