プロフィール詳細

プロジェクトを作成

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Dr. Katarina C.に依頼

Switzerland

Bioinformatician with experience in clinical NGS data analysis

プロフィール概要

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

専門分野

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

サービス

• Writing
• Data & AI

Writing Technical Writing

Data & AI Statistical Analysis, Data Visualization

職務経験

Researcher

Centre Hospitalier Universitaire Vaudois

5月 2020 - 現在

PhD candidate

University of Lausanne

8月 2015 - 4月 2020

学歴

PhD (Bioinformatics)

University of Lausanne

8月 2015 - 4月 2020

Master (Bioinformatics)

University of Bologna

9月 2013 - 7月 2015

認定資格

• 認定資格の詳細は未入力です。

出版物

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.