Research Associate in Bioinformatics

The Rothberg Institute for Childhood Diseases
Job Location: 
Guilford, Connecticut, USA
Compensation will be commensurate with the position and the applicant’s prior experience.
Job Description: 

The Rothberg Institute for Childhood Diseases (TRI) is a non-profit organization dedicated to finding a cure for Tuberous Sclerosis Complex and other related conditions. Tuberous Sclerosis Complex is an autosomal dominant genetic disease that affects 1:5,000 individuals in the USA and world-wide. Affected patients suffer from epilepsy, mental retardation, heart disease, kidney disease, lung disease and skin deformities.

A major focus of our research effort is dedicated towards uncovering the genomic landscape of lesions associated with Tuberous Sclerosis Complex and for cancers that develop in the setting of acquired deficiency of the two Tuberous Sclerosis proteins, TSC1 and TSC2. To achieve this, TRI has built a Sequencing Center anchored by 2 Ion Torrent Proton and 3 Ion Torrent Personal Genome Machine next-generation DNA sequencers. Active projects include both DNA-based whole exome and targeted resequencing approaches of germline DNA and tumor samples from TSC-related lesions as well as RNA-Seq to evaluate the transcriptome.

Now, we are looking for a Bioinformatician to support ongoing data analysis efforts. The successful candidate will have the opportunity to lead the analysis of exome, targeted resequencing and RNA-Seq experiments ongoing at TRI. Because of an existing collaboration with the Yale Cancer Center and the Yale School of Medicine, the successful candidate will also be able to benefit from seminars and conferences related to their support of the ongoing research in our collaborator’s laboratory. The candidate will be expected to contribute to multiple peer-reviewed publications.

Compensation will be commensurate with the position and the applicant’s prior experience.

The Rothberg Institute for Childhood Diseases is an Equal Opportunity Employer.


We are specifically looking for an outstanding, motivated recent graduate with a Bachelor’s or Master’s Degree in Bioinformatics, Computational Biology or Computer Science with prior research experience in handling next-generation DNA sequencing data who is looking for a 1-2 year Post-Grad experience before pursuing PhD-level studies. The ideal candidate will be required to have:

  1. Prior experience with publicly available tools such as ANNOVAR and GATK.
  2. Strong algorithm development skills. Additional experience with Web-based plug-in tool development is preferred but not required.
  3. Data management skills that include manipulating complex datasets as well as building and managing databases.
  4. Basic understanding of biology that includes a foundation for the genetic basis of heritable diseases and the genetic events that lead to cancer development and progression.
  5. High degree of comfort with standard graphing tools useful for building publication-quality figures including Manhattan plots, Heat Maps, Haplotype Linkage Matrices and Circus plots.
  6. Strong written and oral communication skills in English and comfort with standard formats for Scientific Writing. While a prior publication record is not required, other evidence supporting the applicant’s writing skills is preferred.
Contact Information: 

All interested applicants should send a current CV and cover letter to

About Our Organization: 

About TRI: We are a self-funded research institute located on the picturesque shores of the Long Island Sound in Guilford, CT. TRI is situated within walking-distance of the Guilford train station and our historic Town Green. Guilford, CT is a short commute from New Haven, CT, a city noted for its culinary diversity and multiple cultural offerings, and is easily accessible to both New York City and Boston by train and automobile.