Apurba Shil

Genetic Elucidation of Ultrasonography Fetal Anomalies in Children with Autism Spectrum Disorder

This study identifies genetic variants associated with fetal ultrasound anomalies in children with autism spectrum disorder using whole exome sequencing and a bioinformatics pipeline.

AutScore- An integrative scoring approach for prioritization of ultra-rare autism spectrum disorder candidate variants from whole exome sequencing data

AutScore prioritizes ultra-rare ASD candidate variants from WES data by integrating pathogenicity, clinical relevance, and inheritance patterns, outperforming existing methods in detection accuracy.

Comparison of three bioinformatics tools in the detection of ASD candidate variants from whole exome sequencing data

The paper compares three bioinformatics tools for detecting ASD candidate variants from whole-exome sequencing data and finds that combining tools improves detection.