Kieran O’Neill

This study evaluates Parent-of-Origin-Aware genomic analysis (POAga) to improve cascade testing in pancreatic cancer families by clarifying familial risk.

The paper uses long-read sequencing to analyze HPV integration sites in cervical cancer genomes, identifying structural and epigenetic impacts of integration.

This paper presents a long-read sequencing dataset of cancer samples, showing its ability to resolve structural variants, haplotypes, and methylation patterns in precision medicine.

This study uses nanopore sequencing to analyze RNA modifications and their correlations with other RNA features in human cells, revealing negative associations and pathway-specific responses.

This paper shows that using a complete reference genome improves the accuracy and reduces false positives in detecting structural variants in cancer genomes.

IMPALA detects allele-specific expression in cancer samples and identifies potential regulatory mechanisms influencing ASE.

This paper uses long-read DNA methylation sequencing and Strand-seq to detect parent-of-origin and haplotype chromosomes, achieving high accuracy in five trios.

The paper uses nanopore sequencing to detect imprinted differentially methylated regions in human B-lymphocyte cell lines, identifying known and novel DMRs and showing conservation across species.

The paper uses Strand-seq data to correct and construct full-length chromosomes by determining scaffold order and orientation without overlapping sequences.