Kunal Kathuria

This study assesses somatic mosaicism in human frontal cortex using multi-platform sequencing, showing improved variant detection with haplotype-resolved assemblies and single-neuron sequencing.

The paper identifies and validates copy number variants in single human neurons using a new method, revealing nonrandom CNV locations and complex karyotypes in a subset of neurons.

SVXplorer identifies structural variants by integrating discordant clusters, improving accuracy and reproducibility over existing methods.