SOPHiA GENETICS
SOPHiA GENETICS is a healthcare technology democratizing data-driven medicine.
Boston, MA
Remote
Hybrid

Senior Bioinformatician (Genomic Data Scientist)

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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.

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What are SOPHiA GENETICS Perks + Benefits

SOPHiA GENETICS Benefits Overview

90% of health, dental and vision premiums including TeleHealth (company paid)
20 days PTO
13 days Public Holidays
4% 401k match
Tax free commuter benefits
Company sponsored Life Insurance
Company sponsored short-term and long-term disability insurance
Voluntary insurance available : critical illness, accident, legal, hospital indemnity, pet

Culture
Volunteer in local community
Open door policy
Team based strategic planning
Open office floor plan
Employee-led culture committees
Quarterly engagement surveys
Hybrid work model
President's club
Employee awards
Flexible work schedule
Remote work program
Diversity
Highly diverse management team
Health Insurance & Wellness Benefits
Flexible Spending Account (FSA)
Disability insurance
50% STD & LTD covered by company
Dental insurance
90% covered by company
Vision insurance
90% covered by company
Health insurance
90% covered by company
Life insurance
Pet insurance
Team workouts
Mental health benefits
Financial & Retirement
401(K)
401(K) matching
4% match
Company equity
Performance bonus
Child Care & Parental Leave Benefits
Childcare benefits
Generous parental leave
Family medical leave
Company sponsored family events
Vacation & Time Off Benefits
Generous PTO
Paid holidays
Paid sick days
Flexible time off
Bereavement leave benefits
Office Perks
Commuter benefits
Company-sponsored outings
Free snacks and drinks
Some meals provided
Onsite office parking
Relocation assistance
Onsite gym
Professional Development Benefits
Job training & conferences
Lunch and learns
Promote from within
Mentorship program
Continuing education stipend
Paid industry certifications

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