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Precision Medicine Bioinformatics: From raw genome and transcriptome data to clinical interpretation (PMBI01)

16 July 2018 - 20 July 2018


Course Overview:

Precision medicine refers to the use of prevention and treatment strategies that are tailored to the unique features of each individual and their disease. Analysis of high throughput genome and transcriptome data is major component of new large-scale precision medicine efforts. This analysis involves the identification of specific genome or transcriptome features that predispose an individual to disease, predict response to specific therapy, or influence diagnosis and prognosis. During this course (PMBI01), students will perform an end-to-end precision medicine analysis of real human genome (WGS and Exome) and transcriptome (RNA-seq) data. Students will start with raw sequence data for a hypothetical patient, learn to use the tools needed to analyze this data on the cloud, and interpret results in a clinical context. The goal of the analysis will be to identify personalized therapeutic options for this patient as well as identifying any prognostic or diagnostic implications in the data. After completing the course, students should be in a position to (1) understand raw sequence data formats, (2) perform bioinformatics analyses on the cloud, (3) run complete analysis pipelines for alignment, variant calling, annotation, and RNA-seq, (4) visualize and interpret whole genome, exome and RNA-seq results, (5) leverage the identification of passenger variants for immunotherapy (e.g. personalized cancer vaccines) and disease monitoring applications, and (6) begin to place these results in a clinical context by use of variant knowledgebases. The data, tools, and analysis will be most directly relevant to human cancer genomics and bioinformatics. However, many of the skills and concepts covered will be applicable to other human diseases and even those studying non-human organisms. All course materials (including copies of presentations, practical exercises, data files, and example scripts prepared by the instructing team) will be provided electronically to participants.

Intended Audience

This workshop is primarily aimed at researchers and technical workers with a background in biology who want to learn fundamental bioinformatics skills for genomics with a particular emphasis on medical research applications. The course is essentially a crash course in bioinformatics for next generation sequence data analysis. It would also be useful for students with a computational background who seek an introduction to genomics technology and analysis approaches. In general, it is suitable for anyone working with genome or transcriptome data in the context of disease research. Attendees are encouraged to bring their own data or project outlines for discussion. Some time during the course will be dedicated to consultation with a team of instructors from the McDonnell Genome Institute.

Venue –   Pollock Halls of Residence, Edinburgh University – Google Maps – (Directions PDF to follow)
Availability – 30 places
Duration – 5 days
Contact hours – Approx. 37 hours
ECT’s – Equal to 3 ECT’s
Language – English


We offer a COURSE ONLY package – Includes refreshments. ACCOMMODATION is available direct through the venue with two options below, it is important that you use the booking code “CONF18” when booking.

Salisbury Green Hotel 3*
Standard Single
Single Occupancy, £119.00 per night, includes breakfast
Std Double & Std Plus Double
Single Occupancy £134.00 per night, includes breakfast
Double Occupancy £77.00 per night, includes breakfast
Full details and booking HERE,  use booking code “CONF18” when booking.

Masson House  3*
Deluxe Twin / Double room (single occupancy)
Single Occupancy, £139.00 per night, includes breakfast
Deluxe  Twin / Double room
Double Occupancy £79.50 per night, includes breakfast
Full details and booking HERE, use booking code “CONF18” when booking

If you wish to share accommodation but are travelling alone please send requests to oliverhooker@prinformatics.com and I will put people in contact with each other to share single sex rooms.

If you do not wish to book accommodation where the course is being held there are many other options nearby.

To book COURSE ONLY please scroll to the bottom of this page.

Other payment options are available please email oliverhooker@prinformatics.com

Cancellation policy: Cancellations are accepted up to 28 days before the course start date subject to a 25% cancellation fee. Cancellations later than this may be considered, contact oliverhooker@prinformatics.com Failure to attend will result in the full cost of the course being charged. In the unfortunate event that PRinformatics must cancel this course due to unforeseen circumstances a full refund for the course will be credited. However PRinformatics cannot be held responsible for any travel fees, accommodation or other expenses incurred to you as a result of the cancellation.


Dr. Malachi Griffith


Dr. Obi Griffith

Teaching Format
Course Programme


16 July 2018
20 July 2018


30 available
PMBI01 ‘COURSE ONLY’£550.00‘COURSE ONLY’ £550.00