Pediatric Genomics Bioinformatics Analyst – Rare Diseases

Washington University in St. Louis; St. Louis (MO); On-site; USD 2,948,000 - 5,010,000; Full time

Benefits offered by this job

Vacation & holidays

Health insurance

Transit benefit

Tuition assistance

Job summary

Washington University in St. Louis seeks a Bioinformatics Research Analyst to join a collaborative team unraveling the genomic basis of rare diseases.

The role focuses on large genomic datasets from whole genome and exome sequencing, RNA sequencing, and epigenomics, and supports design, implementation, and execution of computational workflows to enable variant discovery. The successful candidate will manage data on an HPC cluster, perform variant analysis and prioritization, and communicate

Qualifications

• Bachelor’s degree or combination of education and/or experience may substitute for minimum education.
• 2+ years of relevant experience in bioinformatics.
• Experience with whole genome/exome sequencing, RNA-Seq, and genomic data analysis.

Responsibilities

• Implements, manages, and runs computational bioinformatics pipelines on a local HPC cluster.
• Maintain and manage large datasets, including data storage and transfer of genomic data.
• Develop and refine computational workflows to improve efficiency and accuracy of genomic data processing.
• Conduct variant analysis and curation to identify genomic variants in rare diseases.
• Collaborate with a multidisciplinary team to interpret results in the context of rare disease research.
• Assist in preparing project reports, presentations, and manuscripts.

Skills

Analytical Thinking

Bioinformatics Tools

Communication

Complex Data Analysis

Computational Biology

Critical Reasoning

Exome Sequencing

Gene Expression Microarray

Genome Sequencing

Genomic Data Analysis

Group Problem Solving

Human Genetics

Model Organism

Nextflow

RNA-Seq

Workflow Management Systems

Education

Bachelor’s degree

Master’s degree in Bioinformatics

Tools

Nextflow

High-Performance Computing

Job description

Washington University in St. Louis seeks a Bioinformatics Research Analyst to join a collaborative team unraveling the genomic basis of rare diseases.

The role focuses on large genomic datasets from whole genome and exome sequencing, RNA sequencing, and epigenomics, and supports design, implementation, and execution of computational workflows to enable variant discovery. The successful candidate will manage data on an HPC cluster, perform variant analysis and prioritization, and communicate