Diagnosis of copy number variation by Illumina next generation sequencing is comparable in performance to oligonucleotide array comparative genomic hybridisation.

Array comparative genomic hybridisation (aCGH) profiling is currently the gold standard for genetic diagnosis of copy number. Next generation sequencing technologies provide an alternative and adaptable method of detecting copy number by comparing the number of sequence reads in non-overlapping windows between patient and control samples. Detection of copy number using the BlueGnome 8×60k oligonucleotide aCGH platform was compared with low resolution next generation sequencing using the Illumina GAIIx on 39 patients with developmental delay and/or learning difficulties who were referred to the Leeds Clinical Cytogenetics Laboratory. Sensitivity and workflow of the two platforms were compared. Customised copy number algorithms assessed sequence counts and detected changes in copy number. Imbalances detected on both platforms were compared. Of the thirty-nine patients analysed, all eleven imbalances detected by array CGH and confirmed by FISH or Q-PCR were also detected by CNV-seq. In addition, CNV-seq reported one purported pathogenic copy number variant that was not detected by array CGH. Non-pathogenic, unconfirmed copy number calls were detected by both platforms; however few were concordant between the two. CNV-seq offers an alternative to array CGH for copy number analysis with resolution and future costs comparable to conventional array CGH platforms and with less stringent sample requirements.

Academics for dental primary care.

Driven by the need to address integrated dental care, many UK dental schools have recognised the advantages of teaching dental practice, or dental primary care (DPC), as a separate and defined subject area. In such schools, DPC may be taught alongside specialist subjects such as restorative dentistry, oral surgery, oral medicine and those traditionally forming elements of the dental undergraduate curriculum. As a result, departments or units of general dental practice or DPC have been established.

The Pathways in Practice programme: an investigation into its potential use by general dental practitioners.

During a series of four meetings to distribute and introduce the 'Pathways in Practice' distance learning programme to general dental practitioners (GDPs) in the Trent region, an investigation was undertaken to determine the postgraduate support needs which the participating GDPs perceived as being appropriate. Small-group (peer review type) meetings were favoured by the majority, supported by additional teaching material and by tutorial sessions. There was a clear need for feedback for those proposing to present for the DGDPRCS Eng. These participants expressed the need for mock examinations and marking of example written questions. During discussions, the use of the programme with in-practice tutorials by vocational training scheme trainers was highlighted, as was the possibility of using modules as core material for peer review meetings. The investigation pinpointed key areas which should be addressed by the Divisional Diploma Tutors when organising post-graduate support for the 'Pathways in Practice' programme. It also highlighted the demands on time which will be encountered by the Tutors.