Project
leader: Chris
Mattocks
Increasingly, research
is uncovering the genetic causes of multi-factorial diseases and
homogeneous syndromes where many genes may be implicated.
Implementation of diagnostic tests for such disorders will demand
ever increasing capacity to sequence multiple genes for each referral.
The new, or “next”, generation sequencing technologies
can deliver capacities several orders of magnitude greater than is
possible by capillary sequencing. Whilst application of these technologies
has mainly focused on large scale, genome wide, research applications,
they have potential profoundly impact on the scope and scale of genetic
diagnostics. However, significant innovations are required to utilise
these generic technologies in the diagnostic setting, primarily:
- The ability
to target regions / gene of clinical interest
- The ability
to ID tag samples to enable multiple tests to run in parallel
- IT infrastructure
and knowledge to enable analysis of the data
This project is focused on development of sample/library preparation
methodologies that will be suitable for diagnostic application over
the short to medium term. This involves both technical aspects and
suitable models for service delivery. We are collaborating with NGRL
(Manchester) to develop a specification for IT requirements associated
with diagnostic use of these technologies.
Article for BSHG news 2008, 38:47-50
Please contact Chris Mattocks (chris.mattocks@salisbury.nhs.uk)
for more information
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