Publications by authors named "Panagiota Pirpa"
Article Synopsis
- Next-generation sequencing (NGS) significantly enhances clinical genetics but poses challenges in technical execution and data interpretation, necessitating a consistent analysis pipeline to minimize inaccuracies.
- A study evaluated 28 combinations of NGS analysis methods, concluding that interval padding is crucial for accurately identifying key variants in breast cancer patients, with BWA-MEM recommended for alignment and a mix of GATK and SAMtools for variant calling.
- The research underscores the need for improved tools and methodologies in clinical settings to ensure reliable identification of important genetic variants, particularly when dedicated bioinformatics support is limited.
In Cyprus, approximately 9% of triple-negative (estrogen receptor-negative, progesterone receptor-negative, and human epidermal growth factor receptor 2-negative) breast cancer (TNBC) patients are positive for germline pathogenic variants (PVs) in . However, the contribution of other genes has not yet been determined. To this end, we aimed to investigate the prevalence of germline PVs in -negative TNBC patients in Cyprus, unselected for family history of cancer or age of diagnosis.
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