Bioinformatics Analyst, Germline Sequencing

New York Genome Center
Job Location
101 Avenue 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 germline DNA sequencing analysis team in the Bioinformatics group. The germline DNA sequencing team aims to develop, maintain, and improve whole-genome (WGS) and whole-exome sequencing (WES) analysis pipelines, including variant discovery, pedigree analysis, and functional annotation. As a Bioinformatics Analyst, you will be responsible for the analysis of next-generation sequencing (NGS) data, specifically small & large-scale WGS and WES data. You will perform analyses using existing pipelines, benchmark new tools, and assist in research projects with external collaborators centered around germline DNA sequencing and genomic data analysis. You will work as part of a team of scientists, analysts, and programmers, under a supervision of an experienced Bioinformatics Scientist.

Job duties might include:

  • Analyze WGS and WES data using established workflows (e.g., germline variant calling pipeline);
  • Perform appropriate QC measures (e.g., assess variant quality metrics);
  • Implement, execute, and document data analysis pipelines and workflows;
  • Benchmark new tools for sequencing data analysis and propose improvements;
  • Assist in developing and applying novel analysis approaches;
  • Assist and collaborate with internal and external researchers on analyses of NGS and genomic data;
  • Summarize results in written or oral reports for bioinformatics scientists and internal researchers;
  • Assist bioinformatics scientists in preparing text and figures for manuscripts and external presentations.
  • BS or MS degree in bioinformatics, computer science, or similar with demonstrable computational and statistical skills required;
  • Strong scientific programming skills - Python, R, bash;
  • Additional programming skills in C++ or Java will be an advantage;
  • Experience with pipeline development and management;
  • Experience working in a Linux environment, experience with SGE or similar job scheduling preferred;
  • Strong attention to detail, documentation, organizational, and problem-solving skills;
  • Team-oriented with excellent written and verbal communication skills.


  • Familiar with various DNA sequence analysis tools, e.g. GATK, VCFtools, SAMtools, BWA, Picard;
  • Experience benchmarking various analysis tools;
  • Experience working with large datasets;
  • Background in genomics and statistics;
  • Familiarity with commonly used public genomics datasets (e.g.; 1000 Genomes, ExAC, gnomAD, ClinVar).
How to Apply
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 hire and advance in employment individuals who are minorities, women, protected veterans, and individuals with disabilities.

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