Senior Bioinformatician

*Guide the R&D team with respect to algorithm development, modification, validation and benchmarking. Basically interact with the data analytics team to guide them with inputs from genomics and variant discovery. The results and the variants identified must be benchmarked and validated against the existing variant discovery tools.

*Refine and improve analysis workflows and assist in the continued development of standard operating procedures for the analysis team.

*Directly analyze exome, genome and transcriptome data for identification of disease-causing variants, using existing and newly-developed analysis tools, for hundreds of rare disease families.Perform clinical correlation of gene/variant with patient phenotype, variant classification, scientific literature review, and/or report writing for genomic tests for research exome and genome analysis.