Job Description:
Are you interested in putting your skills and education to use in a meaningful career? In this role, you will be focused on curating disease, gene and variant knowledge, which is critical to patient care. If this sounds like an exciting position for you, we invite you to learn more and apply today! Purpose: The Genome Bioinformatics Analyst works independently to curate disease, gene and variant knowledge including variant interpretation, reporting and consultation with laboratory staff, physicians and genetic counselors. The analyst participates in clinical test development, validation and maintenance of data analysis pipelines, monitoring of quality metrics and the analysis of large datasets. This position is ideal for a post-doctoral candidate, who is interested in a career in clinical genomics and molecular diagnostics. Responsibilities: -Curates disease, gene, and variant knowledge. Helps implement curated knowledge, resources, and workflows into clinical operations. -Designs and executes clinical validation studies to assess diagnostic test performance. -In consultation with laboratory staff, physicians and genetic counselors, participates in the review of patient results and develops interpretations for clinical reports. -Maintains SOP documentation of NGS bioinformatics pipeline. -Maintains data analysis pipelines, monitors quality metrics and analyzes data sets. -Participates in clinical test development as needed. Evaluates novel platforms and techniques in DNA sequencing, genotyping, and copy-number variation in order to assess suitability for diagnostic application. -Participates in developmental and clinical research projects, as needed. Qualifications: -PhD in molecular biology, human genetics, bioinformatics, computational biology or related field. -MS degree may be considered with two or more years of relevant experience. -Strong experience with standard molecular genetics technologies and Next Generation Sequencing. -Clinical diagnostic experience preferred. -Statistical and bioinformatics skills are a plus. -Familiarity with commonly used databases (HGMD, ExAC 1000 genomes), and bioinformatics tools (samtools, IGV, ANNOVAR, GATK) and file formats (BED, VCR, FASTQ, BAM) preferred. -Strong analytical and organizational skills. Excellent written and oral communication skills. -Works effectively with an interdisciplinary team scientists, physicians, genetic counselors. -Person must demonstrate a high degree of professionalism, enthusiasm and initiative on a daily basis. -Ability to work in a fast-paced environment. -Attention to detail is critical.
Additional Info:
Licensure, Certifications, and Clearances: -Act 33 Child Clearance. -Act 33 Child Clearance with Renewal. -Act 73 FBI Clearance. UPMC is an equal opportunity employer. Minority/Females/Veterans/Individuals with Disabilities. Salary Range: $23.56 to $40.77 Union Position: No[Click Here to Access the Original Job Post]
Are you interested in putting your skills and education to use in a meaningful career? In this role, you will be focused on curating disease, gene and variant knowledge, which is critical to patient care. If this sounds like an exciting position for you, we invite you to learn more and apply today! Purpose: The Genome Bioinformatics Analyst works independently to curate disease, gene and variant knowledge including variant interpretation, reporting and consultation with laboratory staff, physicians and genetic counselors. The analyst participates in clinical test development, validation and maintenance of data analysis pipelines, monitoring of quality metrics and the analysis of large datasets. This position is ideal for a post-doctoral candidate, who is interested in a career in clinical genomics and molecular diagnostics. Responsibilities: -Curates disease, gene, and variant knowledge. Helps implement curated knowledge, resources, and workflows into clinical operations. -Designs and executes clinical validation studies to assess diagnostic test performance. -In consultation with laboratory staff, physicians and genetic counselors, participates in the review of patient results and develops interpretations for clinical reports. -Maintains SOP documentation of NGS bioinformatics pipeline. -Maintains data analysis pipelines, monitors quality metrics and analyzes data sets. -Participates in clinical test development as needed. Evaluates novel platforms and techniques in DNA sequencing, genotyping, and copy-number variation in order to assess suitability for diagnostic application. -Participates in developmental and clinical research projects, as needed. Qualifications: -PhD in molecular biology, human genetics, bioinformatics, computational biology or related field. -MS degree may be considered with two or more years of relevant experience. -Strong experience with standard molecular genetics technologies and Next Generation Sequencing. -Clinical diagnostic experience preferred. -Statistical and bioinformatics skills are a plus. -Familiarity with commonly used databases (HGMD, ExAC 1000 genomes), and bioinformatics tools (samtools, IGV, ANNOVAR, GATK) and file formats (BED, VCR, FASTQ, BAM) preferred. -Strong analytical and organizational skills. Excellent written and oral communication skills. -Works effectively with an interdisciplinary team scientists, physicians, genetic counselors. -Person must demonstrate a high degree of professionalism, enthusiasm and initiative on a daily basis. -Ability to work in a fast-paced environment. -Attention to detail is critical.
Requeriments :
- Doctorate Degree
- M.Sc. or higher Degree in Bioinformatics
- M.Sc. or higher Degree in Computer Science
- Master’s Degree in Genetics
Skills :
Areas :
Additional Info:
Licensure, Certifications, and Clearances: -Act 33 Child Clearance. -Act 33 Child Clearance with Renewal. -Act 73 FBI Clearance. UPMC is an equal opportunity employer. Minority/Females/Veterans/Individuals with Disabilities. Salary Range: $23.56 to $40.77 Union Position: No[Click Here to Access the Original Job Post]