Bioinformatics Scientist (3002KJ)

We are seeking a highly-motivated Bioinformatics Scientist to take a key role in design of highly multiplexed amplification panels and construction of next generation sequencing data analysis workflows to support our single cell genomics platform. The successful candidate will work closely with the Engineering, Biology, and Marketing teams to define and develop tools and workflows that identify clinically relevant genomic variations.


Job Duties

  • Interrogate clinical databases to identify genes and variations associated with relevant clinical indications. Design highly multiplexed amplification panels capable of interrogating these genes
  • Build and maintain automated NGS data processing pipeline (i.e. read alignment, variant calling, and variant annotation) to support development and commercial needs. Assist in the data analysis and support of these projects
  • Provide written documentation and specifications of bioinformatic workflows and requirements
  • Collaborate with internal project teams and with external organizations



  • PhD or Masters in Bioinformatics, Computational biology, Genomics, or a related field. 3+ years industry experience preferred
  • Broad understanding of genomics, genetics, and sequencing technologies
  • Experience with genetic annotation and clinical genetic databases (e.g. RefSeq, Ensembl, dbSNP, DGV, dbVAR, ClinVar, TCGA, COSMIC, and ExAC)
  • Experience with design of highly multiplexed amplification panels
  • Knowledge of analysis of large sequencing datasets in R
  • Proficiency in at least one programming language (Python, Perl, C++, …)
  • Proficiency in at least a language for statistical computing (R, S, Matlab, Octave …)
  • Proficiency in Linux environment
  • Experience with source control practices and tools (Perforce, Git, Bitbucket, etc.)
  • Experience with cloud computing, parallel computing, and big data preferred
  • Experience working with Molecular Biologists and Engineers on a multi-disciplinary development team
  • Strong verbal and written communication skills