Clinical Geneticist-Whole Genome Interpretation | ||||||||||||||||||||
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Job Description | ||||||||||||||||||||
Clinical geneticist, whole genome interpretation Knome, Inc. is a trail-blazing human genome sequence interpretation company based in Cambridge, MA. Founded by George Church, Knome interprets human whole genomes for researchers and clinicians probing the genetic basis of health. We seek a self-starter with advanced training in clinical genetics (ideally MD + PhD), to join a team building tools to draw and convey medically actionable insights from whole human genomes. Applicant must have up-to-date understanding of the genetic etiology of simple and complex diseases (including key open questions in that field), and basic principles of genome structure, function, and variation. Direct experience with relevant reference (e.g., OMIM) and patient (e.g., EMR) data is key. Understanding of relevant experimental methods (e.g., exome sequencing, classical linkage mapping), and diagnostic deployment (e.g., targeted gene panel construction and use), is ideal. Above all, applicant must be passionately interested in the emerging utility of whole genome comparative analysis in clinical research and care. Responsibilities may include: · Devising new methods, and adapting existing methods and reference data, to find known and novel medically actionable variants in patient genomes · Helping manage a growing team of bioinformaticians, and working closely with software engineers, to adapt Knome’s automated genome analysis engine and end-user tools to meet clinics’ administrative, regulatory, and physician-use needs · Tracking developments in clinical genetics through peer-reviewed literature, blogs, webcasts, conference proceedings, and communication with other field leaders Desired qualities: · Up-to-date knowledge of findings, data sources, methods, and user needs in clinical genetics · Top-notch problem-solving skills · Familiarity with bioinformatics scripting and programming environments, and with software engineering teams · Familiarity with relevant toolkits and databases (e.g., locus-specific disease variant databases, genetests.org, Exome Variant Server, PLINK, PLINK/Seq) · Ability to work as a collaborative leader within an entrepreneurial team Benefits: Medical Coverage Dental Coverage Flexible Spending Accounts (FSA) Long-term Disability Insurance Life and AD&D Insurance Employee Assistance Program 401(k) Retirement Plan 15 vacation days and 9 holidays per year Direct Deposit Compensation will be commensurate with experience, with opportunities for an equity stake in an early-stage company. This is a full-time job, located in Cambridge, MA. Qualified candidates: please contact dpyper@knome.com with your resume and cover letter. | ||||||||||||||||||||
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