Senior Bioinformatician (Genomic Data Scientist)
In our journey to impact on patients' lives, we are looking for a Genomic Data Scientist to join the Data Science department of SOPHiA GENETICS. You will play a key role in extending our capabilities to identify clinically relevant genomic alterations from large scale Next-Generation Sequencing datasets (particularly whole genome sequencing). You will achieve this by combining analytical insights with in-depth knowledge of the human genome. We offer flexible working conditions, and the position can be based around Boston, US (fully home office).
Whole exome and whole genome sequencing (WES and WGS) analyses present many challenges, and we must be able to identify many types of clinically relevant alterations (e.g. complex structural rearrangements, non-coding variants and novel gene fusions) in diverse genomic contexts (e.g. highly repetitive, poorly annotated, low complexity and/or polymorphic regions). Your main role will be to combine rich biological knowledge of the human genome and experience of NGS data analysis to develop and improve WES/WGS analysis workflows. You will rigorously evaluate analytical performance, paying particular attention to challenging types of genomic alterations or genomic contexts, and benchmark against external workflows. You will then leverage these scientific and biological insights to overcome analytical challenges and, in collaboration with other teams, help improve and expand the range of SOPHiA GENETICS products.
Requirements
- PhD or 3 years industry/academic experience in bioinformatics and NGS data analysis.
- Deep knowledge of human genome features and annotations e.g. exonic/intronic/intergenic regions, transcript isoforms, repeats, sequence bias, low-complexity regions or polymorphic loci
- Data analysis, visualization and reporting using R or Python.
- Experience analysing whole-genome sequencing NGS datasets and familiarity with the latest tools/software.
- Experience handling large volumes of data within bioinformatic workflows.
- Combine scientific thinking and creativity to overcome analytical challenges.
- Highly motivated and able to work in a fast-paced, multidisciplinary and collaborative environment.
- Working Permit Status: US citizen, green card holder or other qualified working permit in US. Sophia Genetics would not sponsor working permit application for this position.
Benefits
- A flexible, friendly and international working environment with a collaborative atmosphere
- An exciting company mission that brings together science and technology to directly impact the lives of patients with life threatening illness.
- A fast-growing company with plenty of opportunity for personal growth and development
- A hard technical challenge to solve with exciting modern technology - cloud computing, Big Data, DevOps, machine learning
Location: HOME OFFICE (Massachusetts and the surrounding states, 2-3h from Boston)
Start: ASAP (or as agreed)
Contract type: permanent full-time
Application process
If you think you fit this position, please send a CV and a cover letter. Please note that incomplete applications will not be considered.
After an initial screening process, candidates will be invited for remote interviews. Selected candidates will then be invited for personal interviews.