Job Description:
The Research Specialist in Genomic Interpretation will analyze the literature and individuals' genomic data to identify potentially clinically actionable variants such as those related to cancer predisposition, tumor treatment targets, pharmacogenomics, and carrier status. Responsibilities include establishing a process to create and expand a custom database of clinically actionable genomic variants, working closely with a software engineering to automate the detection of and reporting on these variants, manually reviewing individuals' sequenced data, for example when clinically actionable variants are identified, and prioritizing and curating variants based on criteria such as prevalence, biological impact, treatment options, and participants' clinical history. Job Requirements: Ph.D. in bioinformatics, genetics, molecular biology or a related field required. A minimum of two years of postdoctoral training and a minimum of one year of experience examining individuals' genomic data to identify and prioritize variants with health consequences required. Experience prioritizing clinical relevance of tumor variants is preferred. Ability to search for potentially causal variants for specific clinical scenarios preferred. Must have experience utilizing genomic data bases such as ClinVar, ExAC, and PharmGKB, and be proficient with UNIX programming and bioinformatics tools. Ability to work collaboratively within a growing team, proactively take on additional duties as needed, incorporate feedback to improve processes, and maintain flexibility to incorporate new technologies essential. Must possess enthusiasm for using genomics to improve healthcare, excellent oral and written communication skills, and the ability to work independently and prioritize effectively, considering both short and long term goals.
Additional Info:
Employment Status Full Time Laboratory / Department Molecular Neuro-oncology Department Description Our Laboratory is building a team to support a clinical research study that aims to identify and return clinically actionable genomic information in members of the general population. The study will involve creating an end-to-end workflow, from patient consent and enrollment, through collecting samples, producing and analyzing genomic, clinical and environmental data, and returning actionable results, as applicable, along with important context to the participant and their healthcare provider. Through ongoing contact with participants, follow up data can be collected to assess whether and how this information was used to maintain participant wellness.[Click Here to Access the Original Job Post]
The Research Specialist in Genomic Interpretation will analyze the literature and individuals' genomic data to identify potentially clinically actionable variants such as those related to cancer predisposition, tumor treatment targets, pharmacogenomics, and carrier status. Responsibilities include establishing a process to create and expand a custom database of clinically actionable genomic variants, working closely with a software engineering to automate the detection of and reporting on these variants, manually reviewing individuals' sequenced data, for example when clinically actionable variants are identified, and prioritizing and curating variants based on criteria such as prevalence, biological impact, treatment options, and participants' clinical history. Job Requirements: Ph.D. in bioinformatics, genetics, molecular biology or a related field required. A minimum of two years of postdoctoral training and a minimum of one year of experience examining individuals' genomic data to identify and prioritize variants with health consequences required. Experience prioritizing clinical relevance of tumor variants is preferred. Ability to search for potentially causal variants for specific clinical scenarios preferred. Must have experience utilizing genomic data bases such as ClinVar, ExAC, and PharmGKB, and be proficient with UNIX programming and bioinformatics tools. Ability to work collaboratively within a growing team, proactively take on additional duties as needed, incorporate feedback to improve processes, and maintain flexibility to incorporate new technologies essential. Must possess enthusiasm for using genomics to improve healthcare, excellent oral and written communication skills, and the ability to work independently and prioritize effectively, considering both short and long term goals.
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Additional Info:
Employment Status Full Time Laboratory / Department Molecular Neuro-oncology Department Description Our Laboratory is building a team to support a clinical research study that aims to identify and return clinically actionable genomic information in members of the general population. The study will involve creating an end-to-end workflow, from patient consent and enrollment, through collecting samples, producing and analyzing genomic, clinical and environmental data, and returning actionable results, as applicable, along with important context to the participant and their healthcare provider. Through ongoing contact with participants, follow up data can be collected to assess whether and how this information was used to maintain participant wellness.[Click Here to Access the Original Job Post]