Giltae Song

GVRP improves variant calling in non-human species by refining DeepVariant results with a machine learning model trained on GIAB data.

The paper develops a method to detect complex structural variants across human genomes and finds they are associated with phenotypic hotspots and evolutionary changes.

The paper assembles the pig-tailed macaque genome using linked-read sequencing and HiC scaffolding, achieving chromosome-level resolution and identifying large-scale chromosomal rearrangements with humans.

The paper provides a comprehensive whole-genome analysis of K562, identifying genomic structural features and their impact on functional genomics data.

This paper provides a haplotype-resolved genome analysis of the HepG2 cell line, identifying genomic features and allele-specific regulation to support functional genomics studies.