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Updated: Jun 29, 2025

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
Published on: April 4, 2018
Ensuring Trust in Genomics Research
Erman Ayday1, Jaideep Vaidya2, Xiaoqian Jiang3
1Department of Computer and Data Sciences Case Western Reserve University Cleveland, OH.
Abstract:
Reproducibility, transparency, representation, and privacy underpin the trust on genomics research in general and genome-wide association studies (GWAS) in particular. Concerns about these issues can be mitigated by technologies that address privacy protection, quality control, and verifiability of GWAS. However, many of the existing technological solutions have been developed in isolation and may address one aspect of reproducibility, transparency, representation, and privacy of GWAS while unknowingly impacting other aspects. As a consequence, the current patchwork of technological tools only partially and in an overlapping manner address issues with GWAS, sometimes even creating more problems. This paper addresses the progress in a field that creates technological solutions that augment the acceptance and security of population genetic analyses. The text identifies areas that are falling behind in technical implementation or where there is insufficient research. We make the case that a full understanding of the different GWAS settings, technological tools and new research directions can holistically address the requirements for the acceptance of GWAS.
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