Bioinformatician

PRIMARY RESPONSIBILITIES: 

• Developing custom bio-informatics pipelines using Nexflow. 

• Testing and updating pipelines as required. 

• Curating test data for different components as required. 

• Developing custom scripts for testing in Python. 

• Troubleshoot and resolve defects, craft reliable unit tests, perform code reviews and root cause analysis. 

• Understand and be compliant with regulatory, security and data privacy requirements 
  
  

QUALIFICATIONS: 

• Bachelor's degree in computer science, Computer Engineering, Bioinformatics or engineering related area. 

• Minimum of 2 year of experience developing bio-informatics pipelines to analysis NGS data. 
  
  

KNOWLEDGE, SKILLS, AND ABILITIES: 

• Containerization: Docker 

• Orchestration Language: GNU Make,  Nextflow, CWL/WDL 

• Source control: GitHub, Git 

• Scripting Languages: Python, Bash 

• Database experience: PostgreSQL, Redis 

• Bioinformatics Tools: GATK, SAMtools, BAMTools, FastQC, Fastp, bedtools, bwa, primer3, etc. 

• Security / Privacy: HIPAA 

• Biology: Next-generation sequencing, Sanger sequencing, MLPA, PCR, Southern Blot 

• Experience working with Fastq, BAM, VCF, TSV/CSV, JSON files. 

• Strong technical documentation skills 

• Eagerness to acquire new skills in genetics 

• Ability to thrive in a fast-paced environment and manage multiple tasks independently 

• Excellent communication and organizational skills, especially for problem solving under pressure.