Publications by authors named "Manoj Pandya"
Background: Despite having heritability estimates of 80%, ~ 50% cases of autism spectrum disorders (ASD) remain without a genetic diagnosis. Structural variants (SVs) detected using long-read whole genome sequencing (lrWGS) are a relatively new class of variants implicated in neurodevelopmental disorders. Short read sequencing (SRS) and chromosomal microarray (CMA) are unable to resolve these SVs due to their inherent technological limitations.
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- Autism spectrum disorder (ASD) has a growing prevalence globally, with this study focusing on its genetic basis in India, marking the lack of prior data on this region.
- Genetic testing with whole exome sequencing (WES) was evaluated as a preferred first-tier diagnostic tool compared to chromosomal microarray (CMA) in a cohort of Indian patient-parent trios diagnosed with ASD.
- The results indicated that WES identified a higher rate of genetic diagnoses (29.7%) compared to CMA (2.9%), revealing a significant occurrence of de novo variants, particularly in genes associated with key neurological functions, with the MECP2 gene being notably affected.