Bioinformatics Scientist: Targeted NGS Assay Development

Pillar Biosciences; United States; Remote; USD 90,000 - 120,000; Full time

Job summary

Pillar Biosciences seeks a hands-on bioinformatics scientist to design, evaluate, and improve targeted NGS assays. You will combine programming with human genomics expertise to translate complex findings into clear conclusions and collaborate across molecular biology, software, product development, regulatory, and clinical teams.

You will develop reproducible analyses in Python, R, and Bash, analyze DNA and RNA sequencing data, investigate assay performance and failures, and research targets

Qualifications

• MS or PhD in bioinformatics, computational biology, genetics, genomics, or related field.
• Hands-on programming experience in Python or R; should write analysis code.
• Strong knowledge of human genomics and genetic variation.
• Experience analyzing human NGS data including alignment, QC, and variant analysis.
• Familiarity with FASTQ, BAM/CRAM, VCF, BED, BWA, samtools, bedtools, GATK or equivalents.
• Ability to investigate complex datasets and communicate conclusions.
• Strong scientific writing and documentation skills.
• Ability to manage multiple analyses with documentation.

Responsibilities

• Develop reproducible analyses and workflows in Python, R, and/or Bash to evaluate NGS assay performance.
• Analyze DNA and RNA sequencing data for SNVs, indels, CNVs, fusions, and coverage.
• Investigate assay failures using sequencing data and metadata.
• Support development of targeted amplicon-based NGS assay workflows.
• Research genomic targets using ClinVar, gnomAD, TCGA/cBioPortal, dbSNP, and literature.
• Collaborate with molecular biology scientists to translate observations into analyses.
• Develop tools and scripts to improve assay development.
• Maintain organized, reproducible analyses with version control and documentation.
• Communicate findings through technical reports and presentations.
• Manage multiple development projects with clear records of methods and results.

Skills

Python

R

Genomics

NGS Data

Scientific writing

Education

MS/PhD in bioinformatics or related field

Tools

FASTQ

BAM/CRAM

VCF

BED

BWA

samtools

bedtools

GATK

Job description

Pillar Biosciences seeks a hands-on bioinformatics scientist to design, evaluate, and improve targeted NGS assays. You will combine programming with human genomics expertise to translate complex findings into clear conclusions and collaborate across molecular biology, software, product development, regulatory, and clinical teams.

You will develop reproducible analyses in Python, R, and Bash, analyze DNA and RNA sequencing data, investigate assay performance and failures, and research targets