Data Science Research Associate- Summer Intern
Company: Axle Informatics
Location: Rockville
Posted on: May 13, 2022
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Job Description:
Axle Informatics is a bioinformatics and information technology
company that offers innovative computer services, informatics, and
enterprise solutions to research centers and healthcare
organizations around the globe. With experts in software
engineering, bioinformatics and program management, we focus on
developing and applying technology tools and techniques to empower
decision-making and accelerate the discovery in translational
research. We work with some of the top research organizations and
facilities in the country including multiple institutes at the
National Institutes of Health (NIH). Axle is seeking a highly
ambitious, adaptable, structured, and detail oriented Data Science
Research Associate to join our rare disease informatics team at
Bethesda. This is a 3 month Summer Internship. The ideal candidate
is willing to work between 30-40 hours per week and has the desire
to have NIH listed on their resume.Currently, there are about
7,000-10,000 known rare diseases that affect people in the US, yet
only a few hundred (less than 5%) have a treatment and even fewer a
cure. A rare disease is defined in US law (Orphan Drug Act (ODA) of
1983,[1] Rare Diseases Act (RDA) of 2002[2]) as a disease or
condition that affects fewer than 200,000 people in the US. Most
rare diseases affect far fewer patients than this, with most rare
diseases affecting only a few hundreds to thousands of patients.
Collectively, however, rare diseases are not rare at all, and in
total are estimated to affect as many as 25-30 million patients in
the US, making rare diseases a large public health
consideration.The ORDR's GARD information center was established in
2003 under a Congressional Mandate (RDA 2002), and is a federally
funded program that has an essential role in the dissemination of
public health information to rare disease researchers, clinicians,
and patients that is freely accessible to the public. However,
obtaining accurate, comprehensive, timely, and objective
information on rare diseases is often difficult, given the large
number of rare diseases, rapidly evolving science (especially
related to genomics), diverse data sources, and inconsistent
nomenclature and ontologies for rare disease classification, among
other issues. Recently, GARD has been undergoing a re-envisioning
and re-design based on a Neo4j knowledge graph database that
integrates rare disease data from multiple sources to keep the
information on -6,000 different rare diseases in GARD up-to-date
and useful to the patient and clinical research communities.
Research tools, artificial intelligent models, data visualization
and informatics infrastructure based on the knowledge graph
database will be developed to support rare diseases research and
clinical activities, and to answer rare disease research questions
likely to inform rare disease research prioritization.[1] Orphan
Drug Act of 1983, amended for prevalence 1984. Pub.L. 97-414[2]
Rare Diseases Act of 2002, Pub.L. 107-280Responsibilities:Work
collaboratively with data scientists and application developers to
develop informatics infrastructure and support for rare diseases
research. Query the existing GARD knowledge graph database for rare
diseases data, such as disease classification/ontologies coding
(e.g., ICD 10), genetics, clinical characteristics/phenotypic
information, diagnosis, and treatment, among others.Collect,
quality check, process and integrate data from publicly available
data and information resources.Develop a Neo4j database for data
management. Develop APIs for user access to the existing knowledge
graph database.Apply machine learning and/or natural language
processing approaches for data mapping and knowledge
extraction.Qualifications:Associate or Bachelor's degree or
enrolled in an accredited Associate or Bachelor's degree program in
Computer Science or Data Science.Good understanding of principles
and concepts in database management and software
development.Familiarity with Linux/Unix operating
system.Familiarity with one or more programing languages, such as
Python, Perl, Java etc.Experience in database management, web
application and/or API development is preferred.Good understanding
of principles and concepts of data mining.Experience in machine
learning, deep learning and/or natural language processing is
highly preferred.Experience in non-relational database, such as
Neo4j, is highly preferred.Experience in containers (e.g. Docker,
Singularity), version control (e.g. GitHub) and workflow management
(e.g. Snakemake) is highly preferred.The diversity of Axle's
employees is a tremendous asset. We are firmly committed to
providing equal opportunity in all aspects of employment and will
not tolerate any illegal discrimination or harassment based age,
race, gender, religion, national origin, disability, marital
status, covered veteran status, sexual orientation, status with
respect to public assistance, and other characteristics protected
under state, federal, or local law and to deter those who aid,
abet, or induce discrimination or coerce others to
discriminate.Accessibility: If you need an accommodation as part of
the employment process please
contact:Email:careers@axleinfo.comDisclaimer: The above description
is meant to illustrate the general nature of work and level of
effort being performed by individual's assigned to this position or
job description. This is not restricted as a complete list of all
skills, responsibilities, duties, and/or assignments required.
Individuals may be required to perform duties outside of their
position, job description or responsibilities as needed.
Keywords: Axle Informatics, Rockville , Data Science Research Associate- Summer Intern, Other , Rockville, Maryland
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