Estefania Mancini

Work as a part-time embedded bioinformatician within a multidisciplinary team studying hematologic malignancies, with a primary focus on supporting and training researchers in the analysis of next-generation sequencing (NGS) data.

Key Responsibilities:

Provide bioinformatics support to wet lab researchers, PhD students, and postdoctoral fellows.

Train non-computational staff in NGS data management, analysis workflows, and interpretation.

Collaborate with scientists to design experiments and develop tailored bioinformatics strategies.

Facilitate cross-disciplinary communication between bioinformaticians and experimentalists.

Core Skills & Tools:

NGS data processing and analysis. Data visualization and reporting. Scientific training & mentoring. Effective science communication. Project management in a research environment

Contributed to an innovative, cross-functional project integrating RNA sequencing and artificial intelligence to develop whole-blood screening tests for early detection of complex diseases, including cardiovascular conditions and cancer.

Focused on building robust, scalable infrastructure and pipelines to ensure high-quality data generation for machine learning applications.

Key Contributions & Responsibilities

Developed and maintained automated, cloud-based bioinformatics pipelines (AWS) for processing and analyzing RNA-seq data.

Ensured data quality and integrity across large-scale sequencing experiments to support downstream AI modeling.

Managed and curated databases to streamline access to clean, well-annotated datasets.

Provided mentorship and technical guidance to junior bioinformaticians, promoting best practices in code, documentation, and reproducibility.

Collaborated closely with data scientists, clinicians, and software engineers to align sequencing outputs with AI model requirements.

Core Skills & Tools

RNA-seq data analysis and pipeline development. Cloud computing. Workflow management tools. Database management. Team leadership, technical mentorship, cross-functional collaboration

Focused on the development and refinement of computational methods to study splicing and post-transcriptional gene regulation. Played a key role in a large-scale RNA-seq project analyzing the functional impact of silencing ~300 genes associated with alternative splicing regulation.

Key Contributions & Responsibilities

Designed and executed RNA-seq analysis pipelines to assess splicing outcomes across hundreds of gene knockdowns.

Contributed to the development of novel bioinformatics approaches for interpreting complex transcriptomic datasets and to to study alternative splicing patterns and post-transcriptional regulatory mechanisms.

Supported the research team with tailored bioinformatics analyses and visualization of key findings.

Core Skills & Tools

RNA-seq and alternative splicing analysis. Transcriptomic data interpretation and statistical modeling. Pipeline development and reproducibility. Data visualization

Scientific consulting and collaborative problem-solving. Experimental design and statistical support in genomics research