Article

Whole Exome Sequencing in Pediatric Rare Diseases: Genomic Insights and Clinical Utility from single canter Indian Cohort

2026-08-13

Abstract excerpt

<title>Abstract</title> <p>Background Rare genetic disorders are a significant cause of pediatric morbidity and mortality, yet remain underdiagnosed due to genetic heterogeneity and phenotypic overlap. Whole-exome sequencing (WES) has emerged as a powerful diagnostic tool. Objective To determine the diagnostic yield, variant spectrum, and clinical impact of WES in South Asian pediatric patients with suspected g...

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Literature Corpus work: 3d8efa4d-56ee-5bf8-b7c7-a6d34ecdc6a5
DOI: 10.21203/rs.3.rs-10477864/v1

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