Fig. 1 | Scientific Reports

Fig. 1

From: Exome sequencing reveals low-frequency and rare variant contributions to multiple sclerosis susceptibility in Turkish families

Fig. 1

Workflow of whole exome sequencing and genetic analysis for multiple sclerosis families. This workflow outlines the stepwise approach for identifying and prioritizing genetic variants contributing to MS heritability in a cohort of 215 subjects from 59 families (138 MS cases, 77 unaffected). WES was performed, followed by HLA haplotyping using HLA-HD and variant calling, yielding 589,587 variants. Subsequent filtering removed variants on sex chromosomes and those failing Hardy-Weinberg Equilibrium (HWE), reducing the dataset to 510,102 variants. A low-frequency and rare variants (LFRV) filter was applied based on Genome Aggregation Database (gnomAD) MAF, and predicted impacts, considering variants with potentially deleterious effects. Segregation analyses under complete and incomplete penetrance models were conducted alongside burden analysis of genes harboring multiple variants. Enrichment analysis using g:Profiler identified significant pathways associated with MS. The results were further filtered based on gene and variant segregation patterns.

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