Bipin Balan

This study uses long-read whole genome sequencing and pangenomes to identify novel variants and pathogenic findings in neurodevelopmental disorder cases from underrepresented populations.

The paper identifies two pathogenic variants in a consanguineous family, one causing hearing loss and the other neurodevelopmental disorder, through genomic and transcriptomic analysis.

The paper presents the first Arab Pangenome Reference using long-read and Hi-C data, revealing novel sequences and variants specific to Arab populations.

PanScan is a tool for tertiary analysis of human pangenome graphs, enabling detection of duplicated genes, novel variants, and complex genomic regions.

The paper sequences and assembles the genome of Candida albicans ATCC 10231, identifying genomic variations linked to responses to fluconazole, pH, and non-invasive growth.

The paper compares ancient and modern Eurasian genomes to assess if cognitive ability variants increased during the Holocene, finding significant modern genome advantages in polygenic scores.