Elena A. Repnikova

Wakhan reconstructs chromosome-scale copy number profiles of tumor genomes using long-read sequencing, showing better consistency with data than existing methods.

The paper expands the human genomic imprinting map using long-read sequencing and GWAS integration, revealing new disease-associated loci and maternal/paternal imprinting patterns.

This study shows that HiFi long-read sequencing can detect clinically relevant structural variants in pediatric leukemia, improving subtype classification.