Roles of interacting stress related genes in lifespan regulation: insights for translating experimental findings to humans

Yashin, Anatoliy I.; Wu, Deqing; Arbeev, Konstantin G.; Akushevich, Igor; Bagley, Olivia; Duan, Matt; Ukraintseva, Svetlana V.

doi:10.20517/jtgg.2021.26

Cited by 1 publication

(1 citation statement)

References 144 publications

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“…The UpSet plot enables users to observe the intersection of important SNPs selected from each method. Additionally, PGSbuilder incorporates our original GenEpi software 36 , which provides a unique method to uncover the genetic epistasis associated with phenotypes, as demonstrated in other recent studies 51,52 . Finally, as clinical factors are provided, PGSbuilder will rank the weights of them and PRS to highlight the most predictive feature, which helps users investigate the risk factor precisely.…”

Section: Discussionmentioning

confidence: 99%

PGSbuilder: An end-to-end platform for human genome association analysis and polygenic risk score predictions

Lee¹,

Lee²,

Hsieh³

et al. 2023

Preprint

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Understanding the genetic basis of human complex diseases is increasingly important in the development of precision medicine. Over the last decade, genome-wide association studies (GWAS) have become a key technique for detecting associations between common diseases and single nucleotide polymorphisms (SNPs) present in a cohort of individuals. Alternatively, the polygenic risk score (PRS), which often applies results from GWAS summary statistics, is calculated for the estimation of genetic propensity to a trait at the individual level. Despite many GWAS and PRS tools being available to analyze a large volume of genotype data, most clinicians and medical researchers are often not familiar with the bioinformatics tools and lack access to a high-performance computing cluster resource. To fill this gap, we provide a publicly available web server, PGSbuilder, for the GWAS and PRS analysis of human genomes with variant annotations. The user-friendly and intuitive PGSbuilder web server is developed to facilitate the discovery of the genetic variants associated with complex traits and diseases for medical professionals with limited computational skills. For GWAS analysis, PGSbuilder provides the most renowned analysis tool PLINK 2.0 package. For PRS, PGSbuilder provides six different PRS methods including Clumping and Thresholding, Lassosum, LDPred2, GenEpi, PRS-CS, and PRSice2. Furthermore, PGSbuilder provides an intuitive user interface to examine the annotated functional effects of variants from known biomedical databases and relevant literature using advanced natural language processing approaches. In conclusion, PGSbuilder offers a reliable platform to aid researchers in advancing the public perception of genomic risk and precision medicine for human disease genetics. PGSbuilder is freely accessible at http://pgsb.tw23.org.

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Section: Discussionmentioning

confidence: 99%

PGSbuilder: An end-to-end platform for human genome association analysis and polygenic risk score predictions

Lee¹,

Lee²,

Hsieh³

et al. 2023

Preprint

View full text Add to dashboard Cite

show abstract

Roles of interacting stress related genes in lifespan regulation: insights for translating experimental findings to humans

Abstract: O, Duan M, Ukraintseva S. Roles of interacting stress related genes in lifespan regulation: insights for translating experimental findings to humans.

Cited by 1 publication

References 144 publications

PGSbuilder: An end-to-end platform for human genome association analysis and polygenic risk score predictions

PGSbuilder: An end-to-end platform for human genome association analysis and polygenic risk score predictions

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