UPMC Magee-Womens Hospital Clinical Genomics Lab (UCGL) is hiring a Genome Bioinformatics Analyst! This is a full-time daylight position Monday through Friday, and will work remotely.

Learn more about the UPMC Medical Genetics and Genomics Laboratories by visiting our website here (https://geneticslab.upmc.com/) .

Responsibilities:

+ Designs and executes clinical validation studies to assess diagnostic test performance.

+ Curates disease, gene, and variant knowledge. Helps implement curated knowledge, resources, and workflows into clinical operations.

+ Participates in developmental and clinical research projects, as needed.

+ Maintains SOP documentation of NGS bioinformatics pipeline.

+ In consultation with laboratory staff, physicians and genetic counselors, participates in the review of patient results and develops interpretations for clinical reports.

+ 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.

+ Maintains data analysis pipelines, monitors quality metrics and analyzes data sets.

+ PhD in molecular biology, human genetics, bioinformatics, computational biology or related field.

+ MS degree may be considered with 2 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.

Licensure, Certifications, and Clearances:

+ Act 34

UPMC is an Equal Opportunity Employer/Disability/Veteran