Senior Bioinformatician 9/2/2016
JOB DESCRIPTIONAPPLY 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 next generation sequence analysis and human genetics.
THIS IS A FULL-TIME, ONSITE POSITION BASED IN OUR KENDALL SQUARE OFFICE IN CAMBRIDGE, MA.
Working with our team of scientists and informatics staff on continued development and implementation whole-genome and whole-exome sequence analysis based on our informatics pipeline. Senior Bioinformatician also work with our genetics and informatics groups to analyze our informatics systems for accuracy and content, and to further improve the analysis and interpretation of sequence variants.
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 databaseinfrastructure.
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 candidates 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 the 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 biology and genetics is a plus
MUST BE US CITIZEN, GREEN CARD OR PERMANENT RESIDENT
DUPLICATE SUBMISSIONS WILL NOT BE REVIEWED