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Hire Dr. Katarina C.

Switzerland

Bioinformatician with experience in clinical NGS data analysis

Profile Summary

Bioinformatician with experience in data analysis in the field of human inherited diseases and cancer. Very passionate for Science Communication and Outreach.

Subject Matter Expertise

• ★ Next Generation Sequencing (NGS)
• ★ Bioinformatics
• ★ Science Communication
• ☆ Cancer Research

Services

• Writing
• Data & AI

Writing Technical Writing

Data & AI Statistical Analysis, Data Visualization

Work Experience

Researcher

Centre Hospitalier Universitaire Vaudois

May 2020 - Present

PhD candidate

University of Lausanne

August 2015 - April 2020

Education

PhD (Bioinformatics)

University of Lausanne

August 2015 - April 2020

Master (Bioinformatics)

University of Bologna

September 2013 - July 2015

Certifications

• Certification details not provided.

Publications

PREPRINT

(2019). Systematic detection of Mendelian and non-Mendelian variants associated with retinitis pigmentosa by genome-wide association study . [].

JOURNAL ARTICLE

(2019). A frequent variant in the Japanese population determines quasi-Mendelian inheritance of rare retinal ciliopathy . Nature Communications.

(2017). DOMINO: Using Machine Learning to Predict Genes Associated with Dominant Disorders . The American Journal of Human Genetics.

(2016). Comprehensive Genetic Landscape of Uveal Melanoma by Whole-Genome Sequencing . The American Journal of Human Genetics.

(2016). Mutations in CEP78 Cause Cone-Rod Dystrophy and Hearing Loss Associated with Primary-Cilia Defects . The American Journal of Human Genetics.

(2013). A Missense Mutation in the Rabbit Melanocortin 4 Receptor (MC4R) Gene is Associated with Finisching Weight in a Meat Rabbit Line . Animal Biotechnology.