Our informatics systems have been finely tuned on this massive knowledge base to provide users with unmatched confidence in their results.
We are delivering the resources developed at deCODE to the clinical domain so that physicians and geneticists can diagnose diseases of unknown origin faster and more accurately by quickly identifying and confirming the causative genes and mutations.
We are a growing global genome informatics and diagnostics company offering the world’s most proven technology for next generation sequence-based genetic testing and analysis, and seek to hire bioinformaticians with expertise in cancer genetics including both germline and tumor genetics.
This is a full-time position based in our Kendall Square office in Cambridge, MA. submit your CV to email@example.com
Working with our team of scientists and informatics staff on continued development and implementation of the tumor vs germline analysis based on our informatics pipeline applied to whole exome and whole genome datasets. Successful candidates will collaborate with our genetics and informatics groups to analyze our informatics systems for accuracy and content, and to further improve the analysis and interpretation of tumor-specific mutations.
Our mature informatics pipeline was developed and validated using whole genome sequence data on hundreds of thousands of patients. It begins with the raw sequence data and results in comprehensive variant calls, tumor-specific calls, and variant annotations along with raw BAM file data stored in our novel sequence database infrastructure. These data and results are efficiently accessible through our validated web-based sequence analysis tools that integrate public domain disease variant and annotation datasets.
The raw sequence data underlying potential pathogenic variants in germline or tumor sequences are immediately visualized for confirmation using our genome browser. This user-friendly system significantly reduces hands on time for the analysis and interpretation of sequence-based tests. The successful candidate will be located at our Cambridge site and will work with both our genetics group and our informatics group.
Additional duties include training of outside users and then testing and validation of new versions of the sequence analysis tools.
A PhD and a thorough understanding and experience in working with algorithms and software applications for high-throughput sequence data (NGS)
Significant programming experience is required (Unix shell programming and Python/Perl/Java/C++)
Familiarity with some of the mainstream software packages for secondary analysis, such as BWA, GATK, MuTect, VarScan2, etc.
A good overview of the key public reference databases for clinical variation data
Additional experience in tumor biology and genetics would be an advantage