Bioinformatics Scientist

New York Genome Center
Job Location
New York, NY 10013
Job Description

The New York Genome Center is looking for a highly motivated individual to join our computational biology group. As Bioinformatics Scientist, you will have primary technical responsibility for the maintenance, benchmarking, and continuous improvement of our germline genome analysis pipeline for all resequencing applications. You will also be responsible for overseeing daily operation of the pipeline and handling of custom analysis and reporting for NYGC staff and collaborator. You will supervise analysts and programmers performing development and analysis in this area. You should have significant experience in DNA sequencing analysis, including familiarity with commonly used algorithms for alignment, variant calling, and structural variant calling. Expertise in one or more common disease areas would be ideal. You should also be familiar with standard statistical methods for data QC and be comfortable evaluating and presenting both production metrics and scientific results. Collaboration with other members of the computational biology team as well as external collaborators and customers is paramount. Publication of developed methods and scientific findings is encouraged.

Job duties will include, but are not limited to:

  • Primary technical responsibility for maintenance, improvement, and operation of the germline sequencing analysis pipeline;
  • Analyze sequencing data using established workflows;
  • Stay current on innovations in DNA sequencing analysis;
  • Recommend and implement changes to the sequencing pipeline based on state-of-art;
  • Development of novel sequence analysis methods where off-the-shelf methods are inadequate;
  • Generate and track appropriate quality metrics for high throughput sequencing operations;
  • Work with internal staff and collaborators to implement new methods or prototype and benchmark customized analysis and annotation pipelines;
  • Work with the clinical team to manage transfer of research pipelines to the clinical lab as needed;
  • Work with the software engineering team to ensure pipeline upgrades and new pipelines are properly implemented in our production workflow manager;
  • Assist, collaborate, and consult with internal/external researchers on analysis of genomic data;
  • Interpret and present analysis results to coworkers and collaborators;
  • Publish results in scientific journals and give presentations at conferences.
  • Ph.D. in bioinformatics, computational biology, genetics, computer science or similar;
  • Experience in DNA sequencing analysis, including alignment, variant calling, structural variant calling, and variant annotation;
  • Familiarity with the human genome and its annotation, experience in human disease genetics a plus;
  • Proficiency in utilizing data from public resources such as Genome in a Bottle, 1000 Genomes, ExAC, and GnomAD;
  • Proficiency in R/Matlab, and one or more programming languages such as Python, Perl, Java, or C/C++, willingness to learn new programming languages as necessary to collaborate at NYGC;
  • Experience working in Linux and running tasks in a cluster environment (e.g. SGE);
  • Experience or training in statistics or machine learning preferred, at minimum sufficient statistical knowledge to develop and interpret standard QC metrics for sequencing;
  • Experience working in teams centered around a biological question and with external collaborators;
  • Excellent written and verbal communication skills. 
How to Apply

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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. 

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