Lead Scientist II
Job Responsibilities
- Oversee curation and interpretation of genome results
- Participate in training and supervising a team of 10-15 genome curators
- Liaise with partnering centres, organise MDT and issue research reports
- Develop and manage workflows for tertiary analysis of next-generation sequencing (NGS) and long-read sequencing data in the scientific team
- Involve in managing different research projects of undiagnosed diseases and cancers
- Involve in the development of multiomics analysis
- Provide support to data, NAS, server and cloud management to other staff in the scientific team
- Perform any other duties assigned by senior officers
Job Requirements
- A PhD degree in sciences, bioinformatics or related disciplines
- Preferably at least 4 years of relevant experience in human cancer genetics and/or rare diseases
- Proficient in international guidelines on variant interpretation using genomic sequencing data
- Skilled in utilizing publicly available human genomic resources, e.g. NCBI, Ensembl, ClinVar, UCSC and other open-source resources
- Expert in tertiary analysis of short-read datasets, including copy number variant and structural variant.
- Experienced in analysis of cancer genomes, single-cell sequencing and long-read sequencing data would be an advantage
- Experience in managing, training and supervising genome curators would be an advantage