Sr. Research Specialist

Job ID: 176394475
Job date: 2016-12-05
End Date:

Company : Johns Hopkins University 

Country :

Role : Research Scientist 


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Job Description:
The Baylor-Hopkins Center for Mendelian Genomics (BHCMG) is a NIH funded project that performs whole exome and genome sequencing on patients' samples received from medical institutions across the globe. David Valle, Professor and Director of the McKusick-Nathans Institute of Genetic Medicine (IGM) is the PI on the BHCMG grant. BHCMG uses a spectrum of technical platforms to sequence and analyze DNA samples from individuals with a wide array of inherited Mendelian disorders to identify the genes and variants responsible for these diseases.

The BHCMG seeks an individual who can perform next generation sequencing (NGS) bioinformatics analyses and facilitate the development of internal databases for tracking genetic variants and their disease-association classification. Understanding the biological and lab flow process needs of the project will be vital to developing and implementing ideal solutions to the challenges we face. Ideally this individual will be involved in data analysis and some bench work applications.

Complete QC analysis of data generated by NGS, Sanger sequencing and other platforms as needed. Perform data analysis of data generated by NGS, Sanger sequencing and other platforms as needed. Improve and maintain PhenoDB, a database phenotypic and genomic data. Improve and maintain GeneMatcher, a web-based tool developed to connect individuals with interest in the same gene. Achieve competency in and perform DNA testing using designated molecular diagnostic techniques as needed [e.g.including DNA extraction (manual and automated), PCR, DNA sequencing (Sanger and Next Generation), and in silico analysis on prenatal tissue samples and postnatal blood samples.] Achieve BHCMG certification in the following skill sets within 1 week: HIPAA and Safety training and basic lab skills. Balance performing several different tasks through the work day. Work as part of a team in a coordinated fashion and support the overall mission of the BHCMG. Under minimal supervision complete all tasks, procedures, and protocols. Work independently and manage daily research.

Qualifications:

Bachelor's degree in biology or a related discipline.

Four years related experience in biology and/or genetics.

Preferred Qualifications:

Master's Degree in Bioinformatics or a related discipline.


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Additional Info:
The successful candidate(s) for this position will be subject to a pre-employment background check.

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