Clinical Molecular Geneticist at Human Longevity
San Diego, CA, US
San Diego | R0000355
Purpose of Job
The Molecular Geneticist will work with genomic, bioinformatic, and clinical scientists to interpret genotype and phenotype data to predict risk and assist in diagnosis. This individual must have a strong molecular genetics background and experience with a variety of molecular techniques.
Tasks and Responsibilities
Understands and guides application of the technical details of next-generation sequencing; serve as an expert regarding the limitations and advantages of different methods of library preparation and sequencing
Understand sand provides education regarding the challenges, limitations, and advantages between gene panels, exome, whole genome sequencing
Determines components and concentrations for library preparation and sequencing; optimize conditions for library preparation and sequencing
Troubleshoot failed or non-specific reactions
Ensures appropriate controls are always utilized; understand new test validation approaches for NGS-based tests and introduce into HLI practices
Observes, performs and guides usage of quantitative PCR to quantify gene expression and gene dosage and to assay for mutations and single nucleotide polymorphisms
Observes, performs and guides the use of microarrays in the laboratory to screen for single nucleotide variants (including SNPs), intragenic deletions and duplications, chromosomal copy number variant, or gene expression
Understands principles of genotyping and direct applications within the HLI environment
Understands and directs usage of array probe design and relationship to data
Uses and understands software packages for clinical lab processing, data analysis and storage, and for report writing
Understands and ensures HLI compliance in use of electronic record keeping with respect to health information
Applies the informatics processes that connects sample requisition to wet lab processes, data analysis, report writing, and transmission of final reports to referring physicians
Understands the process to collect information from multiple individuals in the process between sample accession to final report and applies to interpretation performed
Uses current software for next-generation sequencing variant calling and confirmations (e.g. BWA, GATK)
Identifies artifacts and trouble spots in genome sequence data as part of data interpretation, including the visualization of single nucleotide and copy number variation; basic biostatistical analysis of sequencing data; and analyzing and integrating data from orthogonal confirmation methods
Observe uses the following bioinformatics tools as part of interpretation work- genome browsers (UCSC, IGV, ENSEMBL), human genome variation databases (e.g., ClinVar, 1000Genomes, ESP), variant analysis software, if available (custom software or vendor software), in silico algorithms for prediction of effects of missense changes (PolyPhen, GERP, SIFT, Alamut, etc.)
Understands and applies basic biostatistical concepts, including case-control studies, odds ratios, use of different statistical measurements, appreciating outcomes of population studies.
Interprets results of all laboratory assays to determine normal/affected/carrier status
Provide oversight for HLI variant interpretation practices
Correlates results with other laboratory results and/or clinical information to develop an appropriate interpretation of the laboratory results.
Assesses the need to recommend additional studies needed to complete the diagnosis (e.g., perform additional testing, request family studies).
Minimum Qualifications (Must have)
An advanced degree in (Ph.D, M.D., or equivalent)
Maintain an active certification with the American Board of Medical Genetics and Genomics (ABMGG)
A deep understanding of NGS technologies
A knowledge and application of Quantitative PCR principles and techniques
A knowledge and application of the principles and techniques associated with microarray analysis
A comprehensive knowledge of Bioinformatics including software technologies, variant calling, and genomic analysis
Post-analytic laboratory skills including interpretation of results and the preparation of reports and recommendations
Open office environment
Global environment with multiple sites, which may require work beyond standard business hours
Prolonged periods of sitting, standing, bending and kneeling
Must be able to lift and transport at least 25 pounds
Human Longevity, Inc. is an equal opportunity employer
DISCLAIMER: The information on this description has been designed to indicate the general nature and level of work. It is not designed to be interpreted as a comprehensive inventory of all duties and responsibilities of an employee to this job.