Bioinformatics Specialist I, Analytic & Translational Genetics Unit

Boston, MA, United States

Job Description - Bioinformatics Specialist I, Analytic & Translational Genetics Unit (3282055)

Bioinformatics Specialist I, Analytic & Translational Genetics Unit - ( 3282055 )

GENERAL SUMMARY/ OVERVIEW STATEMENT: Summarize the nature and level of work performed. Please note that this section should be written in a paragraph format and provide a broad description of the role and its purpose as well as the reporting structure.

The Karczewski Laboratory in the Center for Genomic Medicine (CGM) and Analytic and Translational Genetics Unit (ATGU) at Massachusetts General Hospital (MGH) and the Broad Institute of Harvard and MIT is seeking exceptional computational biology candidates to build tools necessary to visualize and interpret massive data sets of human genetic variation and functional genomic information. The Karczewski Laboratory helped lead the development of gnomAD (https://gnomad.broadinstitute.org), the world’s largest public reference dataset of human exomes and genomes. gnomAD has become one of the most widely used resources in the field and is now the default reference database for virtually all clinical interpretation pipelines, as well as a standard analysis resource for a wide variety of genetic and biological studies. We estimate gnomAD has contributed to the clinical diagnosis of over 2 million patients with genetic disorders.

Candidates will have the opportunity to work in a unique translational genomics environment in the CGM that seeks to integrate computational genomics, technology development, and molecular genomics methods. The MGH and the Broad Institute provide a vibrant research environment with close links to top academic institutions across the Boston area and provide the potential for your contributions to be used and recognized worldwide.

This position is hybrid, including both onsite and remote work.

PRINCIPAL DUTIES AND RESPONSIBILITIES: In order of importance, list essential areas of responsibility, major job duties, special projects and key objectives for this position. These items should be evaluated throughout the year and included in the written annual evaluation. This section should be completed as a bulleted list and explain how the role is performed.

· Apply state-of-the-art front-end libraries, such as TypeScript and React, and cloud-based infrastructure in Hail to store and serve data on the back-end

· Develop new visualization approaches to easily disseminate clinical data

Evaluate and recommend new emerging tools for use in project

Collaborate with other bioinformaticians to improve new genetic analysis

Create scientifically rigorous visualizations, communications, and presentations of results

Contribute to the generation of pipelines, protocols, publications, and intellectual property

SKILLS & COMPETENCIES REQUIRED:This section should be a bulleted list of minimum requirements explaining the skills (what the individual is trained for) and competencies (measurable as defined by the job) necessary to perform the job.

· Bachelors or Masters degree in Computer Science or related field or equivalent experience.

· Experience with React, CSS, D3, GraphQL, Python.

· Experience building web-based applications with a focus on quality and incorporating user feedback.

· Highly collaborative attitude and ability to work well in a team setting.

· Demonstrated attention to detail and analytical skills.

· Experience with Docker, Kubernetes, and a major cloud provider (Google Cloud Platform and/or Amazon Web Services) is a plus.

· Experience with bioinformatics datasets and analyses, particularly scalable frameworks such as Hail or Pyspark, is a big plus.

· Solid understanding of machine learning methods, ideally deep learning, with experience using at least one of the following frameworks: Pytorch, TensorFlow, JAX.

EDUCATION: Check boxes that best describe the minimum and preferred education requirements.

BS  and/or MS in computational biology, bioinformatics, computer science, or a related field required.

EXPERIENCE: Indicate the required and preferred (optional)amount and type of experience.

WORKING CONDITIONS: Describe the conditions in which the work is performed.Use this section to detail any physical requirements for the position (lifting, carrying, etc).Use this section to also detail any environmental conditions associated with the position (outdoor weather requirements, hazardous materials, etc).

Office space in the Center for Genomic Medicine at the Simches Research Center of MGH.

EDUCATION: Check boxes that best describe the minimum and preferred education requirements.

BS  and/or MS in computational biology, bioinformatics, computer science, or a related field required.

Visa sponsorship available.

EXPERIENCE: Indicate the required and preferred (optional)amount and type of experience.

Minimum 1 year of directly related work experience in bioinformatics required.

WORKING CONDITIONS: Describe the conditions in which the work is performed.Use this section to detail any physical requirements for the position (lifting, carrying, etc).Use this section to also detail any environmental conditions associated with the position (outdoor weather requirements, hazardous materials, etc).

Office space in the Center for Genomic Medicine at the Simches Research Center of MGH.

Massachusetts General Hospital  is an  Affirmative Action  Employer. By embracing diverse skills, perspectives and ideas, we choose to lead. All qualified applicants will receive consideration for employment without regard to race, color, religious creed, national origin, sex, age, gender identity, disability, sexual orientation, military service, genetic information, and/or other status protected under law.  We will ensure that  all individuals with a disability are  provided  a  reasonable accommodation to participate in the job application or interview process, to perform essential job functions, and to receive other benefits and privileges of employment.

Primary Location Other Locations Work Locations MGH 185 Cambridge

185 Cambridge Street

Job Job IT/Health IT/Informatics - Other

Organization Organization Massachusetts General Hospital(MGH)

Schedule Schedule Full-time

Standard Hours 40

Shift Shift Day Job

Employee Status Employee Status Regular

Recruiting Department MGH Analytic and Translational Genetics Unit

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