Bioinformatics Scientist - Accuracy

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.

We are seeking a talented and motivated Bioinformatics Scientist to join our R&D Team in the area of NGS alignment, assembly and variant detection algorithms to improve platform accuracy. This is a senior role requiring broad experience and demonstrated success in human genomics algorithms and analysis.

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.

Responsibilities

The primary responsibility of this position is to research, develop and test methods and algorithms to improve platform and application performance. This role will involve individual contributions as well as participation in collaborations spanning molecular biology through clinical interpretation.

The successful applicant will:

•   Research, develop and test algorithmic approaches to improve information extraction from degenerate or otherwise difficult regions of the human genome
•   Evaluate third-party tools and propose internally developed replacements where necessary
•   Develop and optimize methods to integrate multiple sequencing assays to optimize performance and accuracy
•   Develop and test variant error models and frameworks, to propagate to clinical interpretation
•   Build strong cross-functional relationships with laboratory, pipeline, and bioinformatics teams
•   Perform genome scale and targeted analysis for internal and external collaborations
•   Both rapid algorithm prototyping, and development for production
Requirements: 

Education/Experience

•   PhD in bioinformatics, genetics, computer science, mathematics or physical science with a focus on string algorithms
•   4 years of industry (or research institute) experience in computational genomics
•   Deep understanding of sequence alignment, assembly and variant detection algorithms and associated statistical models and analysis techniques
•   Broad working knowledge of graph, classification, optimization, string processing and estimation algorithms
•   Demonstrated record of innovation in relevant areas: alignment, assembly, variant calling, modeling errors in sequencing data
•   Expert knowledge in a scientific analysis package such as BioPerl, R or Matlab
•   Proficiency in Python, Java or C++
•   Working knowledge of common NGS data formats (BAM/SAM, VCF, BED/GFF, etc.)
•   Ability to collaborate with a multidisciplinary team of scientists, engineers and clinicians
•   Good written and verbal communication skills
•   Desire to work in a demanding, high-energy, hands-on startup environment
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.