GENERAL SUMMARY/ OVERVIEW STATEMENT:
A Postdoctoral/Instructor Level position is open in the Department of Neurology, University of Massachusetts Medical School. The candidate will be expected to lead efforts in extracting novel biological insights from patient orientated genomic datasets towards the discovery of novel genetic factors contributing to ALS and Parkinson’s disease. The position will be based in the laboratory of John Landers, Ph.D., Professor of Neurology. Examples of such projects to be lead by the candidate can be found in (Nat. Genet. (2016) 48:1037) and (Neuron (2014) 84:324).
PRINCIPAL DUTIES AND RESPONSIBILITIES:
1) To develop solutions and algorithms towards analyzing large-scale next-generation sequencing (NGS) data including whole genome and exome sequence data towards identifying novel genetic factors contributing to ALS and Parkinson’s disease.
2) To oversee one or more Bioinformatics Research Assistants towards maintain and improve to pipelines for the analysis of raw NGS toward identification and annotation of SNPs and structural variants. This includes quality control assessments, principal component analysis and incorporation of results into a database.
3) To work with a Bioinformatics Research Assistant towards the maintenance and expansion of a web-based searchable SNP database.
3) Work interactively with several large international consortiums towards these goals including presenting results at bi-annual meetings.
4) Contribute in the preparation of scientific manuscripts, presentations and presentations of results or new tools at weekly lab meeting and bi-annually at department seminars.
5) Work directly with PI towards the overall goals of the projects.
6) Performs all other duties/responsibilities as directed.
Ph.D. in Computer Science, Computational Biology, Biostatistics, Bioinformatics, Mathematics, or similar fields with 3+ years of programming experience.
ADDITIONAL SKILLS/ ABILITIES/ COMPETENCIES REQUIRED
-Direct experience with NGS data for the identification of SNPs and structural variants including using common NGS tools [e,g, BWA, GATK]
-Extensive experience in population genetics and statistical analysis methods of analyzing large genomic data sets (exome sequencing, genome sequencing, SNP array) using cluster computing.
-Strong background in statistics, database management systems (SQL required) and standard scripting languages (Linux, R, Python etc).
-A demonstrated track record in disease gene mapping or the publication of methods for disease gene mapping is required with particular emphasis being placed on experience relating to rare variant interpretation.
-Ability to work in a highly collaborative and intellectually challenging environment.
-Must work independently
-Excellent oral and written communication skills.
HOW TO APPLY:
Applicants should submit 1) a cover letter highlighting key qualifications, current research activities and future research interests; 2) curriculum vitae with complete bibliography; 3) the names and contact information (including email addresses) of three references; 4) PDF copies of a maximum of three publications that provide evidence of relevant skills. This material should be emailed to:
John.email@example.com with “Bioinformatics Scientist Position” in the subject line.