Responsibilities This is a full-time, one year contract position that is eligible for full benefits. The California Center for Rare Diseases within the UCLA Institute of Precision Health seeks an experienced and creative Bioinformatician to join our efforts in using cutting-edge genomic science to improve our understanding of the role of the human genome in rare diseases. We use exome, whole-genome, and RNA-seq analysis to find causal variants for rare Mendelian disorders and are developing new techniques to increase diagnostic rates and improve clinical and molecular understanding of both known and novel disorders. Position may convert to career.
Qualifications
MS/PhD in bioinformatics, human genetics, or related field; or BS and 2+ years of hands-on experience building and maintaining next-generation sequencing pipelines
Experience with WES, WGS, or RNA-seq analysis
Solid scripting skills in bash and Python, R, or perl
Familiarity with ExAC/gnomAD, GTEx, ClinVar, or other genomic datasets
Excellent verbal and written communication skills
Experience with AWS, DNAnexus, BaseSpace Sequence Hub, or other high-performance cluster computing
Experience with database design and development
Experience with clinical variant interpretation
UCLA is an Equal Opportunity/Affirmative Action employer. All qualified applicants will receive consideration for employment without regard to race, color, religion, sex, sexual orientation, gender identity, national origin, disability, or protected Veteran status.