Genomics and Rare Diseases

OBJECTIVE: Adrenocorticotropic hormone (ACTH) is an effective treatment for infantile epileptic spasms syndrome (IESS); however, its mechanism of action remains incompletely understood. This study aimed to evaluate ACTH treatment response at the level of protein-protein interactions (PPIs) in patients with confirmed a…

• EDİBE PEMPEGÜL YILDIZ

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This study aimed to assess obstetric healthcare providers’ awareness and knowledge of IMDs and their prenatal manifestations. Participants were surveyed using an online questionnaire about clinical and imaging features observed in fetuses and neonates with IMDs, their approach to clinical management when an IMD is sus…

DeSanto-Shinawi syndrome (DESSH) is a rare autosomal dominant neurodevelopmental disorder associated with heterozygous pathogenic variants in the WAC gene, most commonly resulting in loss of function. The clinical spectrum of DESSH continues to expand, whereas detailed electroencephalographic descriptions remain limit…

AIM: Deep intronic variants can disrupt splicing and cause monogenic disease but are missed by routine genetic testing. This study assessed the contribution of deep intronic variants to Wolcott-Rallison syndrome (WRS), a recessive disorder characterized by early-onset diabetes and progressive multisystem disease cause…

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Supplementary Material 1

Supplementary Material 1

Despite rapid advances in whole-genome sequencing (WGS), translating genomic findings into individualized insights remains challenging. We present GenRiskPro, a clinical decision-support and research platform, which automates WGS variant calling, annotation, prioritization, and reporting to deliver actionable findings…

• VarXOmics is an integrated and versatile web server for genomic data querying, variant analysis, and prioritization. • It consolidates multi-omics datasets of eQTL, pQTL, GWAS, MR, and pharmacogenomics information to provide holistic insights into the diverse effects of genetic variation. • It facilitates the identi…