Bioinformatics Scientist – NGS Assay Development

This is a fully remote position, open to applicants in United States.

📋 Description

• Create reproducible analyses and computational workflows using Python, R, and/or Bash to assess the performance of NGS assays.

• Examine DNA and RNA sequencing data from targeted assays, including SNVs, indels, CNVs, fusions, coverage, assay artifacts, and various performance metrics.

• Explore assay failures and unexpected outcomes by utilizing sequencing data, genomic context, experimental metadata, and statistical or computational methods.

• Assist in the development and refinement of targeted amplicon-based NGS assay workflows.

• Investigate genomic targets and interpret assay outcomes using resources such as ClinVar, gnomAD, TCGA/cBioPortal, dbSNP, and primary literature.

• Work collaboratively with molecular biology scientists to convert experimental findings into computational analyses and improve assays.

• Create tools, scripts, and analytical techniques to enhance the efficiency, robustness, and interpretability of assay development.

• Ensure reproducible analyses through version control, data provenance, and thorough documentation.

• Present findings through technical reports, figures, presentations, protocols, and other documentation.

• Oversee multiple development projects and analyses while documenting assumptions, methods, results, and outstanding questions.

⛳️ Requirements

• MS or PhD in bioinformatics, computational biology, genetics, genomics, or a related discipline.

• Proven hands-on programming experience in Python, R, or another general-purpose scientific programming language.

• In-depth understanding of human genomics and genetic variation.

• Experience in analyzing human NGS data, including alignment, quality control, variant analysis, and interpretation.

• Familiarity with FASTQ, BAM/CRAM, VCF, BED, BWA, samtools, bedtools, GATK, or similar tools.

• Capability to independently explore complex datasets, pinpoint analytical or experimental issues, and convey findings.

• Strong skills in scientific writing and documentation.

• Ability to juggle multiple analyses and development tasks while ensuring proper documentation and follow-through.

• Effective communication skills with molecular biologists, software engineers, and other cross-disciplinary collaborators.

• This is a full-time remote position based in the U.S.

• Preferred: experience with targeted NGS assays, oncology genomics, somatic variant analysis, clinically relevant sample types, assay performance metrics, primer/probe or target-region design, genomic algorithms, and familiarity with Git, Jira, or containers.

🏝️ Benefits

• Competitive salary and benefits package.

• Opportunities for professional development and growth.

• Flexible work hours and remote work options.

• Collaborative and innovative work environment.