BACKGROUND

The Mefford Lab in the Center for Pediatric Neurological Disease Research at St. Jude Children's Research Hospital uses genome-wide approaches to identify genetic, genomic and epigenetic causes of human disease including epilepsy, and related pediatric neurodevelopmental disorders. The major focus of our current work is to identify causes of pediatric epilepsy by employing state-of-the-art technologies including whole exome sequencing, targeted gene panel sequencing and custom array comparative genomic hybridization (aCGH). The Mefford lab has discovered numerous new epilepsy genes and copy number variants, including deletions of chromosomes 1q21, 15q13 and 17q12, each of which cause a range of clinical features.

The Bioinformatics Research Scientist will take a prominent role in our research and collaborations to analyze multiple types of genomics data: exome and genome sequence, bulk RNA-seq, single cell/nuclei RNA-seq, methylation, SNP array, and others to identify variants associated with human genetic conditions and understand their underlying mechanisms. The ideal candidate will be capable of self-directed research within broader goals set by group, have previous experience with next-generation sequence data analysis highly desirable, knowledge of statistical/mathematical packages such as R.

BACKGROUND

REQUIREMENTS

LOCALE

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