Bohan Ni

Integration of transcriptomics and long-read genomics prioritizes structural variants in rare disease

The paper integrates long-read sequencing and gene expression to prioritize functional structural variants and tandem repeats in rare disease patients, identifying potential causal variants in a neurodevelopmental disorder.

The functional impact of rare variation across the regulatory cascade

The paper identifies impactful rare variants by integrating multi-omic data from MESA, showing that combining expression and protein data increases the detection of rare stop and frameshift variants.

Validation of human telomere length trans-ancestry meta-analysis association signals identifies POP5 and KBTBD6 as novel human telomere length regulation genes

The paper validates novel telomere length regulation genes POP5 and KBTBD6 identified through trans-ancestry GWAS using functional experiments in blood cells.

Jasmine: Population-scale structural variant comparison and analysis

Jasmine improves SV comparison and analysis by refining SVs, reducing Mendelian discordance, and revealing high-confidence de novo SVs across diverse samples.

Benchmarking challenging small variants with linked and long reads

This paper expands genome benchmarking to include difficult-to-map regions using linked and long reads, identifying more false negatives in variant calling.

Targeted nanopore sequencing by real-time mapping of raw electrical signal with UNCALLED

UNCALLED enables real-time targeted nanopore sequencing by mapping raw electrical signals to references, improving coverage and variant detection in bacterial and human genomes.