Bioinformatics Analyst

Job ID:
Job date: 2014-10-15
End Date:

Company : Personalis 

Country :

Role : Research Scientist 


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Job Description:

Personalis is a genome-scale diagnostics company pioneering genome-guided medicine. We provide clinicians and researchers accurate and comprehensive human genome sequencing and interpretation solutions. We perform accuracy-enhanced genome sequencing assays conducted in our state-of-the art laboratory and analyze results utilizing proprietary databases, advanced human reference sequences, and sophisticated algorithms.

Located in Menlo Park, CA, we are seeking an individual with experience in human cancer genetics and bioinformatics. As a member of a talented team at the leading edge of genomics and bioinformatics, you will be applying the latest bioinformatics approaches to analyze cancer genomics sequencing data for both research and clinical projects, solving real world problems. In addition you will also be actively involved in continuing to improve these approaches in collaboration with other members of the team.

RESPONSIBILITIES
• Analyze customer and collaborative sample data using Personalis bioinformatics pipelines and tools.
• Perform and enhance bioinformatics methods for accurate variant assessment and annotation in cancer samples.
• Participate in the design, development and delivery of research and clinical reports.
• Identify issues running internal tools and generate computational solutions to these challenges.
• Manage daily data production from samples run through our services laboratory.
• Work on cross-functional teams to innovate on laboratory and informatics tools to improve accuracy and yield of disease diagnosis.
• Participate in both internal research projects and external research collaborations.
• Execute bioinformatics experiments to test theories, optimize detection and assessment of mutations, and discover new analytical methods.
• Provide bioinformatics support to ensure data quality and usability.
• Prepare data packaging for delivery of datasets to customers.

Requirements
POSITION REQUIREMENTS:

• Experience working with and analyzing genomic sequencing data from the Illumina HiSeq instrument.
• Experience using standard cancer genomics/bioinformatics tools, e.g. BWA, Samtools, Picard, GATK, MuTect, IGV, Novoalign, ANNOVAR, SnpEff.
• Human molecular genetics education background and general understanding of cancer genetics and Mendelian disease genetics.
• Shell usage and scripting knowledge, e.g. Bash.
• Experience with high performance computing (HPC), SGE, NAS, and cloud computing a plus.
• Ability to implement and document computational algorithms in common scripting languages (e.g. Perl, Python, R).
• Knowledge of relational database design and programming with databases preferred. (MySQL, Oracle).
• Strong team ethic with open, honest, and considerate communication skills.
• Experience with SCRUM development environments a plus.
• Ability to collaborate with other scientists, researchers, and clinicians.

EDUCATION/EXPERIENCE:

• Advanced degree (PhD or MS) in human genetics, molecular genetics, genomics, bioinformatics, or a related field.
• Advanced training and/or two or more years experience in bioinformatics.


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Additional Info:

[Click Here to Access the Original Job Post]