Bioinformatics Analyst

Organization: 
Personalis, Inc
Job Location: 
Menlo Park, CA
Job Description: 

Personalis Genome Services provides a vertically integrated solution from NGS sequencing to interpretation with a focus on providing superior, highly accurate results to researchers and clinicians. Our services support researchers engaging in large case-control and family-based genome studies of complex or Mendelian diseases and traits, pharmacogenomics, and cancer. Located in Menlo Park, CA, we are seeking a talented Bioinformatics Analyst to join our Team.

Position Summary

This position is for an individual with experience in both human genetics and bioinformatics. As a member of a talented, diverse scientific and medical team at the leading edge of genomics and bioinformatics research, you will have access to advanced next generation sequencing technologies, big data informatics, large, proprietary databases of genomic variation, and deep scientific expertise.

This role involves biomedical applications in research and development including data acquisition, hypothesis testing, and early tool development. You will create new methodologies for analyzing genomics data, identify disease-causing mutations, and develop research tools to implement these strategies. You will work in collaboration with teams focused on accuracy and interpretation and expand our capability to detect and understand genomic variation.

Responsibilities

•   Develop and enhance bioinformatics methods for accurate variant assessment and annotation
•   Discover disease-causing mutations in genomic data from probands, trios, and pedigrees in collaboration with customers
•   Participate in the design, development and delivery of research and clinical reports
•   Work on cross functional teams to innovate on laboratory and informatics tools to improve accuracy and yield of disease diagnosis
•   Design and execute bioinformatics experiments to test theories, optimize detection and assessment of mutations, and discover new analytical methods
•   Create design documents and participate in development discussions with software developers towards the creation of production-quality software
•   Author and publish research papers on novel methods, results from collaborations
•   Attend and present at scientific and clinical conferences
•   Work cross-functionally with Marketing and Operations to design and deploy solutions
•   A passion for the science of personalized medicine
Requirements: 

Education/Experience

•   Advanced degree (PhD or MS) in human genetics, molecular genetics, genomics, or bioinformatics, PhD preferred
•   Advanced training and/or post doc and/or one or more years experience in bioinformatics
•   Human molecular genetics education background and general understanding of Mendelian and complex disease genetics
•   Experience working with and analyzing genomic sequencing data from the Illumina HiSeq instrument
•   Experience using standard genomics/bioinformatics tools, e.g. BWA, Samtools, Picard, GATK, IGV, Novoalign, ANNOVAR, SnpEff
•   Extensive knowledge of online genomics resources, e.g. UCSC Genome Browser, NCBI’s Entrez Gene, Ensembl, dbSNP, Galaxy
•   Experience with human mutation databases, e.g. OMIM, ClinVar, HGMD, PharmGKB preferred
•   Programming skills preferred (Perl, Python, R); Shell usage and scripting knowledge, e.g. Bash
•   Knowledge of relational database design and programming with databases preferred (MySQL, Oracle)
•   Experience with SCRUM development environments a plus
•   Strong team ethic with open, honest, and considerate communication skills
•   Ability to collaborate with other scientists, researchers, and clinicians
Contact Information: 

Personalis is an equal opportunity employer. Personalis offers a competitive compensation and benefits package. If interested, please submit a letter of interest, resume and salary requirements to careers@personalis.com.

About Our Organization: 

Personalis is a genome-scale diagnostics company with a mission to pioneer genome guided medicine. Our priority is to obtain the most accurate genetic data from each sample, and then to draw the most reliable medically-focused conclusions from these. Our tests are based on whole human genome and exome sequencing, conducted in our state-of-the art laboratory. We analyze results utilizing proprietary databases, advanced human reference sequences, and sophisticated algorithms.