Bioinformatics Analyst - Molecular Diagnostics | GenomeWeb

Bioinformatics Analyst - Molecular Diagnostics

New York Genome Center
Job Location
101 Ave of the Americas
New York, NY 10013
Job Description

The New York Genome Center is looking for a highly motivated, detail-oriented individual to join our rapidly expanding Clinical informatics division within the NYGC CLIA Laboratory. As a Bioinformatics Analyst specializing in molecular diagnostics, you will be responsible for the analysis of next-generation sequencing (NGS) data for hereditary diseases and cancer conformant to CLIA / CLEP guidelines. You will work as part of a team of highly experienced staff and scientists at the NYGC CLIA Laboratory.


Job duties will include:

  • Analyze sequencing data using established workflows
  •  Perform and evaluate appropriate QC measures
  • Implement, execute and document data analysis pipelines and workflows
  • Analyze validation experiments for laboratory developed tests (LDT)
  • Benchmark new tools for sequencing data analysis and propose improvements
  • Develop and apply novel analysis approaches to aid variant prioritization
  • Summarize results in written or oral reports for CLIA laboratory personnel
  • Assist CLIA laboratory personnel in preparing data, text and figures for LDT validation proposals, manuscripts and external presentations


  • MS degree with 3+ years work/research experience or PhD in bioinformatics, molecular biology, human genetics or related scientific field with demonstrable biomedical informatics skills required
  • Background in disease-focused genomics
  • Strong programming skills in Python and shell scripting
  • Work experience with various sequence analysis tools, including BWA, GATK, Picard, samtools and etc.
  • Knowledge of CNV analysis and clinical reporting
  • Familiarity with various QC principles and analysis (eg. concordance, contamination and etc)
  • Work experience with commonly used public genomics datasets (1000 genomes, ExAC, OMIM, ClinVar, HGMD, CIViCDB, PharmGKB etc.)
  • Background in pathway analyses
  • Details-oriented, well-organized
  • Team oriented with excellent written and verbal communication skills;



  • Prior experience working in CLIA environment is a plus
  • Experience of benchmarking various analysis tools
  • Programming skills in R
  • Experience of working in a Linux environment, experience with SGE 
About Our Organization

The New York Genome Center (NYGC) is an independent, non-profit organization that leverages the collaborative resources of leading academic medical centers, research universities, and commercial organizations. Our vision is to transform medical research and clinical care in New York and beyond through the creation of one of the largest genomics facilities in North America, integrating sequencing, bioinformatics, and data management, as well as performing cutting-edge genomics research.


The New York Genome Center is a VEVRAA Federal Contractor. All qualified applicants will receive consideration for employment and will not be discriminated against on the basis of race, color, religion, sex, sexual orientation, national origin, age, disability, or protected veteran status. The New York Genome Center takes affirmative action in support of its policy to and advance in employment individuals who are minorities, women, protected veterans, and individuals with disabilities.

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