Population-scale, long-read characterization of human genome and microbiome

Division Of Basic Sciences - Nci

Investigators

Linked publications, trials & patents

Abstract

In FY2025 we are continuing collaborating with NIH CARD center to develop scalable long-read pipelines and apply these pipelines to sequence and analyze thousands of human brain genomes. Our group contributed to a recently released preprint on this topic, and we are continuing optimizing the assembly pipeline to aid sequencing of the new cohorts. Software packages that we are maintaining include Hapdup, Napu and Flye. At the same time, our group has been collaborating with Standford on detecting heterozygous structural variants in bacterial population. Our group developed a new assembly-based approach to detect such heterozygosities from long-read metagenomic sequencing. We are now applying this method to publicly available bacterial long-read data available from the sequence read archive to investigate the prevalence of the complex heterozygous inversions in different bacterial species.