The Rothberg Institute for Childhood Diseases (TRI) is a non-profit organization located on the Guilford, CT shoreline 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.
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.
Our ideal candidate will have:
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.
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