FIGURE

Fig. 1

ID

ZDB-FIG-220131-20

Publication

Restuadi et al., 2022 - Functional characterisation of the amyotrophic lateral sclerosis risk locus GPX3/TNIP1

Other Figures

All Figure Page

Back to All Figure Page

Fig. 1

Summary of the in silico, in vitro and in vivo follow-up of ALS GWAS findings. Causal genes/genomic loci implicated by a SNP association are not necessarily the closest (empirical estimate of those that are ~ 30%, Zhu et al. [18]) and the flowchart provides a stepped example on how this paper integrated complementary bioinformatic methods on GWAS summary statistics to prioritise GPX3 and TNIP1 for follow-up in disease cohorts and in vitro (human spinal motor neurons) and in vivo (zebrafish-MO) models. Relevant bioinformatic tools and processes used in this paper are described [5, 18–23]. GWAS genome-wide association study, h²_SNP proportion of heritability explained by SNPs, FUMA Functional Mapping and Annotation pipeline, S-LDSC Stratified Linkage Disequilibrium Score regression, GCTA-COJO conditional and joint analysis, SMR-HEIDI Summary Mendelian Randomisation and the HEterogeneity In Dependent Instruments test, TWAS-CONTENT transcriptome-wide association study and context-specific genetics test, PoPS Polygenic Priority Score, siRNA short interfering RNA, iPSC induced pluripotent stem cells, Zebrafish-MO zebrafish morpholino, UKB UK-biobank, chr chromosome

Expression Data

Expression Detail

Antibody Labeling

Phenotype Data

Phenotype Detail

Acknowledgments

This image is the copyrighted work of the attributed author or publisher, and ZFIN has permission only to display this image to its users. Additional permissions should be obtained from the applicable author or publisher of the image. Full text @ Genome Med.