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Company

Ambry Genetics · 14 hours ago

Bioinformatics Scientist III-Remote, USA

Aliso Viejo, CA

Full-time

Remote

Mid, Senior Level

$125K/yr - $170K/yr

7+ years exp

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Responsibilities

Algorithm, Pipeline Development, and Analysis: Design, develop, and implement scalable bioinformatics algorithms for variant interpretation and maintain bioinformatics pipelines, ensuring accuracy, efficiency, and integration into clinical workflows. Work with statisticians in validation of new methods, including data collection and analysis algorithms. Develop features/tools assisting clinical and genetic analysis.

Gene-Disease Ontology Integration: Use expertise in gene-disease ontologies, such as the Human Phenotype Ontology (HPO), to structure and enhance variant impact predictions, aligning algorithms with clinically relevant genotype-phenotype relationships.

Software Engineering and Custom Development: Develop custom software and features according to specifications and in collaboration with cross-functional teams. Lead end-to-end technical solutions from ideation to release, including time and complexity estimation, testing, and deployment. Drive technical solutions to problems, including end-to-end process flow from ideation to release, and estimating time and complexity. Design and develop custom software according to ticket specifications. Provide clear and consistent feedback on code reviews. Monitor process and log information, troubleshooting issues as needed.

Collaboration and Stakeholder Engagement: Work with stakeholders, including bioinformatics and IT operations teams, to clarify requirements, design workflows, and understand complex bioinformatics needs. Participate in scrum ceremonies and provide feedback to team members through code reviews and mentorship. Meet with clients, partners, product owners, or other stakeholders to understand and clarify workflows and requirements

Troubleshooting and Optimization: Monitor processes and troubleshoot issues as they arise, implementing solutions to enhance pipeline reliability. Drive optimizations in data collection, algorithm validation, and the development of tools for clinical and genetic analysis. Highlight blockers or issues arising during development to resolve in a timely manner. Trouble shooting for bioinformatics pipeline and applications for clinical tests

Documentation and Reporting: Prepare thorough documentation of algorithms, workflows, and methods to ensure reproducibility and support broader team understanding. Support team training and serve as a mentor to junior scientists and engineers.

Mentorship: Act as a role model for the team, settings standards for excellence and mentoring junior engineers

Other duties as assigned.

Qualification

Find out how your skills align with this job's requirements. If anything seems off, you can easily click on the tags to select or unselect skills to reflect your actual expertise.

Bioinformatics AlgorithmsGene-Disease OntologiesHigh-Throughput Genetic Data AnalysisProgramming LanguagesCloud ComputingCI/CD ToolsContainerizationAPI DevelopmentStatistical AnalysisClinical GeneticsMolecular BiologyGenomicsDocumentation

Required

PhD degree in bioinformatics, computational biology, structural biology, biophysics, biology, computer science, or related discipline and 4+ years post-doctoral research experience or industrial experience

MS degree in bioinformatics, computational biology, structural biology, biophysics, biology, computer science, or related discipline and 7+ years industrial experience

Preferred

Proficiency with bioinformatics databases (ClinVar, HGMD, OMIM) and programming languages (Python, R, SQL, bash, Perl, C/C++, Java) in Linux/Unix.

Skilled in cloud computing (AWS, Azure, Google Cloud), CI/CD (Bamboo, Jenkins), containerization (Docker), and high-performance computing.

Strong knowledge of gene-disease ontologies, bioinformatics software.

Experienced in API development, statistical analysis methods, and use of frameworks/tools like PHP, React, Symfony, and Atlassian suite (Jira, Confluence).

Advanced analytical skills focused on creating efficient, reproducible bioinformatics solutions for clinical and research applications, with strong statistical analysis expertise.

Excellent written and verbal communication skills, with a proven ability to work both independently and collaboratively across teams.

Demonstrated leadership in mentoring and setting high performance standards.

In-depth knowledge of clinical genetics, mutation analysis, and bioinformatics principles, with experience in gene-disease ontologies and databases (HGVS nomenclatures, ClinVar, HGMD).

Proficient in molecular biology, and genomics for automated clinical interpretation.

Benefits

Short-Term Incentive Plan with the target at 7.5% of your annual earnings

Medical

Dental

Vision

401k with a 4% employer match

FSA

Paid sick leave

Generous paid time off (PTO) program

Company

Ambry Genetics

Glassdoor

3.1

Ambry leads in clinical genetic diagnostics and genetics software solutions.

Founded in 1999

Aliso Viejo, California, USA

501-1,000 employees

http://www.ambrygen.com/

H1B Sponsorship

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Distribution of Different Job Fields Receiving Sponsorship

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Trends of Total Sponsorships

2023 (2)

2022 (3)

2021 (6)

2020 (8)