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Bioinformatics Lead

Company: N/A

Location: Durham, NC

Pay: $100,000.00 - $120,000.00 /Year

Contact Information

Phone: n/a
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Job Description

Bioinformatics Lead position-Direct Hire

We want someone who has primarily

  1. worked in a clinical CLIA lab service setting as opposed to technology development.

  2. experience in not only low level software calling like GATK but also development of software callers.

  3. Performed and handled DNA sequencing data like Exome or Whole genome or panels and understand probe design, qc etc.

  4. Last the person must understand ACMG standards, variant calling etc. LIMS, AWS etc.


We are seeking a Clinical and Laboratory Informatics lead to participate in a unique opportunity establishing a CLIA licensed laboratory for newborn testing. The individual will manage the bioinformatics program within the company laboratory and will have an integral role in test design, development, validation and reporting of biochemical and molecular tests, including next-generation sequencing.

Principal Duties and Responsibilities

The individual will be charged with the development of bioinformatics strategy and implement it through execution that is comprehensive, consistent, targeted to the company needs, and the ecosystem surrounding newborn including broader pediatric genomics. The individual will work closely with the leadership team to and set key priorities that enable delivery of milestones, novel applications and diagnostic tests. For clinical operations the person will be charged with establishing and optimizing informatics analysis pipelines, coordination with collaboration groups, external vendors, and the extended team.

         Direct, coordinate and manage the development and implementation of various informatics programs relating to clinical NGS testing. These include software for collecting, storing and mining clinical data within medical records so as to provide access of data to interpreters, consultants and researchers and to improve the work-flow of patient care.

         Bioinformatic and statistical analyses of genomics data; build gene panels, software to interface with various informatics vendor packages, genetic databases and clinical laboratory reporting, in an effort to integrate data in support of medical decision making.

         Lead software development, integration, verification and validation efforts for CLIA certified lab and manage SOPs.

         Lead architect of accessioning and laboratory information management system (LIMS) as well as development of the data warehouse and related interpretation applications serving multiple functional groups.

         Technical management of production applications and servers including software installation, configuration, testing and release, version control, and change.

         Develop informatics protocols, lead feasibility, product development, trial programs and coordinate with informatics vendor releases and pipeline. Work cross functionally with all internal and external stakeholders to understand the business processes, gather user and functional requirements, prioritize projects and road maps. Establish and maintain software development, standards and best practices.

         Keeps abreast of technology advances and competitive technology threats.

         Assist or coordinate resources in writing journal articles and white papers.

         Present or coordinate posters and abstracts at conferences as required.

Job Requirements

Skills, Experience and Qualifications

•         PhD in life sciences and computational biology with post-doctoral experience and a strong publication record.

•         In-depth knowledge of computational biology, Mendelian genomics and next generation sequencing.

•         A proven track record of success building clinical informatics tools, leading and managing informatics projects.

•         Ability to build relationships with thought leaders.

•         Ability to work “hands on” with limited support, and independently. Be able to meet deadlines.

•         Demonstrated success in planning and execution of project management and strategies in life science companies.

•         Decisive, bold as well as collaborative.

•         Demonstrated ability to craft and lead high-impact programs on a tight development and launch schedule

•         Manage transactional relationships with partners, consultants, vendors.