Nazneen Rahman

This study shows that targeted CNS radiotherapy disrupts DNA methylation and induces neuroinflammation through epigenetic changes in brain tissue and cerebral organoids.

The paper evaluates the detection of technically challenging variants in NGS workflows using synthetic specimens and clinical data from 450,000 patients, finding significant variability in detection rates.

The paper identifies biallelic mutations in CENATAC as a cause of constitutional aneuploidy by disrupting minor intron splicing and causing chromosome segregation errors.

This paper introduces Linked-Reads as a method to comprehensively analyze genome variation, showing it can detect both small and large variants and reconstruct haplotypes more effectively than short-read sequencing.

This study evaluates synthetic specimens with challenging variants across 10 NGS workflows, finding limited variant detection consistency and highlighting bioinformatic limitations.

This study evaluates the cost-effectiveness of germline BRCA testing in UK ovarian cancer patients, finding it cost-effective with an ICER of £4,339/QALY.

This study implements a streamlined BRCA gene testing pathway for ovarian cancer patients, achieving high uptake and efficiency with significant cost savings and improved patient outcomes.

This paper analyzes the costs of BRCA gene testing pathways in a UK cancer genetics service, finding significant cost variation and suggesting cost-efficiency improvements by testing more cancer patients.

This paper introduces CSN and CAVA, tools for standardized, rapid variant annotation of NGS data, showing high accuracy and clinical relevance in BRCA1/BRCA2 analysis.