Nana Mensah

The paper benchmarks structural variant callers in cancer genomics and recommends a consensus approach combining Delly, GRIDSS, Manta, and SvABA for improved performance.

This study identifies epigenetic changes and accelerated ageing in multifocal small intestinal neuroendocrine tumours, revealing altered metabolic gene regulation and tumour-specific methylation patterns.

TierUp automates reanalysis of genomic data to identify novel gene-disease associations, improving diagnostic yield for undiagnosed rare disease cases.

This paper introduces CAMDAC, a method to deconvolve tumor-normal DNA methylation profiles while accounting for copy number changes, revealing epigenetic instability and distinct patterns in lung cancer.