In our journey to impact on patients' lives, we are looking for a Next-Generation Sequencing Pipeline Scientist to join the Data Science department of SOPHiA GENETICS. You will play a key role in evaluating and developing cutting-edge computational workflows to process large clinical genomic datasets, helping us deliver accurate clinical insights by detecting diverse types of genomic alteration. We offer flexible working conditions, and the position can be based around Boston, US (fully home office).

In this position, you will encounter diverse clinical datasets (e.g. whole exome and whole genome sequencing) and many types of genomic alteration (e.g. SNVs, indels, gene fusions, complex structural alterations, CNVs). Your main role will be to evaluate and compare the analytical performance of SOPHiA GENETICS products and external bioinformatic pipelines. You will perform in depth investigations to understand how technical factors (e.g. the algorithms used) affect performance for different types of genomic alteration. By leveraging these scientific insights, together with a broad knowledge of state-of-the-art tools and algorithms, you will develop prototype pipelines with improved performance for even the most challenging variants. You will work closely with other teams to help incorporate these improvements into the next generation of SOPHiA GENETICS products, maximising our capability to help patients by providing deep genomic insights.

Requirements

• PhD or 3 years industry/academic experience in bioinformatics and NGS data analysis.
• Experience using a wide range of software for identifying genomic alterations (e.g. SNVs, indels, gene fusions), and an understanding of the algorithms involved.
• Data analysis, visualization and reporting using R or Python.
• Analytical mindset; approach problems in a systematic and scientific manner.
• Experience handling large volumes of data within complex workflows.
• Solid understanding of genomic technologies and genomic biology.
• 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.