Job:Opportunity: Biomedical Informatics Data Specialist (long term NIH contract position)
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2.5 years ago
Robert ▴ 10

Please leave a comment if you are interested or email me your CV or resume and any supporting documents at

Medical Science and Computing (MSC; a Guidehouse company) is currently searching for a Biomedical Informatics Data Specialist to provide support to the National Institutes of Health (NIH). This opportunity is a full-time position with MSC, and it is on-site in Rockville, MD.

Key Skills:

  • 3+ years of Python and Bash scripting
  • Writing Snakemake or similar pipelines
  • HPC computing
  • Contribute code with team members using git
  • Bioinformatics
  • Human Clinical Genomics
  • OMIM, Gnomad, ClinVar, HGMD, and other databases
  • Handling and exploring VCF files
  • High level communication, documentation, organizational, and time-management skills

Duties & Responsibilities:

  • Work closely with a small diverse team of scientists and engineers to deliver high-quality data
  • Document and design data models
  • Extract, integrate, and reconcile new data sources with existing knowledge bases
  • Perform quality control on data to ensure that it meets requirements
  • Working with the project team and an enterprise infrastructure team to test the impact of new functionality on data
  • Experiment with new data management technologies and systems and prototyping solution
  • Working within the developer team to share knowledge, collaboratively developing best practices
  • Working with Stakeholders, Users, and Project Managers to meet NIH Project Goals and Milestones

Primary Requirements:

  • BS. or higher degree in computational life sciences or related field.
  • Demonstrated expert fluency (3+ years working experience) in using Python for bioinformatics or biomedical informatics data management pipelines
  • Experience with snakemake pipelines
  • Proficiency in the use of UNIX/Linux and bash scripting
  • Experience with high performance computing and cloud environments
  • Experience with common clinical genomic file formats (primarily VCF, but also BAM)
  • Experience using Git and GitHub for tracking code changes and sharing contributions of multiple team members
  • Demonstrated experience extending the functionality of existing software; ability to learn an existing body of code and extend it.
  • Experience with annotating human genomes with annotations through scripting and the use of reference genome databases
  • Knowledge of public genomic databases such as OMIM, Gnomad, ClinVar, HGMD, others
  • Excellent communication skills and ability to work with users, including to develop and document requirements
  • Excellent organizational and time-management skills
  • Experience communicating with end users on software development projects

Secondary Requirements:

  • Experience mapping reads to human genome reference databases and understanding of challenges in migrating annotations between genome reference versions (GRCH.37 / GRCH.38)
  • Experience reviewing mapped reads using genome browsers such as IGV
  • Experience working with human genome variant calling pipelines such as GATK
  • Solid understanding of human genome annotation databases (gnomAD, 1000 genome, ExAC)
  • Demonstrated knowledge of scientific data sources, data structures, and mapping data to models
  • Demonstrated skills in extracting, integrating, and reconciling new data sources with existing knowledge bases

Bonus Requirements:

  • Experience with CLIA compliant clinical genomics pipelines
  • Experience with the product LabKey
  • Experience with developing data visualizations and dashboards
  • Familiarity with relational and non-relational database systems (SQL, MongoDB, Neo4j)

Due to our contractual requirements and federal orders, including an Executive Order from the White House and an emergency regulation from the Centers for Medicare & Medicaid Services (CMS), the position for which you are applying requires that you provide proof of your vaccination status. If you are unable to receive the COVID-19 vaccine for medical reasons or because of a sincerely held religious belief, you may request an exemption from the vaccination requirement which shall be reviewed after the submission of requested documentation. If an accommodation is granted, the conditions may include weekly testing and masking. All Guidehouse employees also agree to follow any additional health and safety mitigation policies that may be required in the workplace.

Company Description

Dovel Technologies and its Family of Companies (Medical Science & Computing and Ace Info Solutions) was acquired in October 2021.

Guidehouse is a leading global provider of consulting services to the public sector and commercial markets, with broad capabilities in management, technology, and risk consulting. By combining our public and private sector expertise, we help clients address their most complex challenges and navigate significant regulatory pressures focusing on transformational change, business resiliency, and technology-driven innovation. Across a range of advisory, consulting, outsourcing, and digital services, we create scalable, innovative solutions that help our clients outwit complexity and position them for future growth and success. The company has more than 12,000 professionals in over 50 locations globally. Guidehouse is a Veritas Capital portfolio company, led by seasoned professionals with proven and diverse expertise in traditional and emerging technologies, markets, and agenda-setting issues driving national and global economies.

Guidehouse is an Equal Employment Opportunity / Affirmative Action employer. All qualified applicants will receive consideration for employment without regard to race, color, national origin, ancestry, citizenship status, military status, protected veteran status, religion, creed, physical or mental disability, medical condition, marital status, sex, sexual orientation, gender, gender identity or expression, age, genetic information, or any other basis protected by law, ordinance, or regulation.

Guidehouse will consider for employment qualified applicants with criminal histories in a manner consistent with the requirements of applicable law or ordinance, including the Fair Chance Ordinance of Los Angeles and San Francisco.

If you have visited our website for information about employment opportunities or to apply for a position, and you require accommodation, please contact Guidehouse Recruiting at 1-571-633-1711 or via email at All information you provide will be kept confidential and will be used only to the extent required to provide needed reasonable accommodation.

Guidehouse does not accept unsolicited resumes through or from search firms or staffing agencies. All unsolicited resumes will be considered the property of Guidehouse, and Guidehouse will not be obligated to pay a placement fee.

snakemake bash python clinical genomics vcf • 2.5k views
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Hi @talhanaeem. Do you have any previous experience?

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no any experience

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Hi Heena (Heena), do you have any previous experience?

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Yes I do have experience

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Feel free to email me any supporting documents at

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2.4 years ago
Robert ▴ 10

If you are interested please email me your CV or resume and any supporting documents at robgilmore127[at]gmail(dot)com.

PS: Email ID edited for making internet bot job a little bit difficult.

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Application done on given email address. Kindly reply


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