Bioinformatics Scientist - Targeted NGS Assay Development

Pillar Biosciences; Abbeyville (CO); Remote; USD 90,000 - 120,000; Full time

Job summary

Pillar Biosciences is seeking a hands-on bioinformatics scientist to design, evaluate, and improve targeted NGS assays, combining strong programming with human genomics expertise. You will analyze sequencing data, investigate assay behavior, and develop reproducible analyses for cross-functional teams.

The role involves translating complex findings into actionable insights for molecular biology, software, regulatory, and clinical teams, with an emphasis on robust documentation and data

Qualifications

• Advanced degree in a genomics-related field with hands-on research focus.
• Proficient in Python or R and able to write analysis code.
• Strong knowledge of human genomics and genetic variation.
• Experience analyzing human NGS data including alignment and variant analysis.
• Familiarity with FASTQ, BAM/CRAM, VCF, BED and common tools.
• Ability to independently investigate data and communicate conclusions.
• Strong scientific writing and reproducible documentation.
• Excellent organizational skills for multiple analyses.

Responsibilities

• Develop reproducible analyses and workflows in Python, R, or Bash.
• Analyze DNA/RNA sequencing data from targeted assays (SNVs, indels, CNVs, fusions).
• Investigate assay failures using sequencing data and statistics.
• Support development of targeted amplicon-based NGS workflows.
• Research genomic targets using ClinVar, gnomAD, TCGA/cBioPortal, dbSNP.
• Collaborate with molecular biology and software teams to translate findings.
• Develop tools and methods to improve assay development efficiency.
• Maintain reproducible analyses with version control and provenance.
• Communicate findings via reports, figures, and documentation.
• Manage multiple projects with clear records of methods and results.

Skills

Python

R

Genomics knowledge

NGS data analysis

Analytical thinking

Documentation

Project management

Communication

Education

MS or PhD in bioinformatics, computational biology, genetics, genomics, or a related field

Tools

FASTQ

BAM/CRAM

VCF

BED

BWA

samtools

bedtools

GATK

Job description

Pillar Biosciences is seeking a hands-on bioinformatics scientist to design, evaluate, and improve targeted NGS assays, combining strong programming with human genomics expertise. You will analyze sequencing data, investigate assay behavior, and develop reproducible analyses for cross-functional teams.

The role involves translating complex findings into actionable insights for molecular biology, software, regulatory, and clinical teams, with an emphasis on robust documentation and data