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Downloads - Presentations and Posters

Reports and Application notes Presentations and Posters Other publications


If you have any problems downloading documents from this page please contact Helen White: hew@soton.ac.uk

2010

Meeting
Title pdf ppt
BSHG Meeting, Warwick, Sept 2010. White HE, Sanders R, Scott DJ, Huggett J,Hall VJ, Waghorn K, Lyon M, Foy CA, Cross NCP Screening for fusion genes involving PDGFRA or PDGFRB in patients with eosinophilia-associated myeloproliferative neoplasms (Eos-MPN) using the Fluidigm BioMark real-time PCR system and 48.48 Dynamic Array
pdf(130KB)
 
15th International Conference on Prenatal Diagnosis and Therapy, Amsterdam July 2010. HE White, CL Dent, VJ Hall, JA Crolla, LS Chitty. Facilitating implementation of NIPD: a modified protocol to detect the universal fetal DNA marker RASSF1A.
pdf(509KB)
 
Accuracy in Molecular Measurement Meeting, London, 24th June 2010. White HE Sensitive and quantitative detection of KIT D816V in patients with systemic mastocytosis
pdf(794KB)
 
European Hematology Association, Barcelona, June 2010. HE White, P Matejtschuk, P Rigsby, J Gabert, YL Wang, S Branford, MC Müller, N Beaufils, E Beillard, D Colomer, D Dvorakova, H Ehrencrona, H Goh, H El Housni, D Jones, V Kairisto, S Kamel-Reid, D-W Kim, S L angabeer, ESK Ma, R Press, G Romeo, L Wang, K Zoi, T Hughes, G Saglio, A Hochhaus, J Goldman, P Metcalfe, NCP Cross Establishment of the 1st World Health Organization International Genetic Reference Panel for quantitation of BCR-ABL mRNA.
pdf(165KB)
 
ACC, Oxford, April 2010 HE White Developing NIPD for aneuploidy

pdf(735KB)
 
RAPID Lab dissemination meeting, London, Jan 2010. White HE Development of RASSF1A assay: universal fetal DNA marker
pdf(1.01MB)
 
RAPID Lab dissemination meeting, London, Jan 2010. White HE Developing NIPD for aneuploidy
pdf(454KB)
 
BSHG Mattocks CJ, Matthijs G, Morris M on behalf of the EuroGentest working group on validation “A standardised framework for the validation and verification of diagnostic molecular genetic tests”
pdf(368KB)
 
CMGS – April 2010 Mattocks CJClonal sequencing technologies”
pdf(368KB)
 
ACC – April 2010 Mattocks CJThe use of new sequencing technologies  for genome analysis”
pdf(524KB)
 
READNA – January 2010 Mattocks CJ “Clonal sequencing technologies: considerations for diagnostic service delivery”
pdf(81KB)
 

2009

Meeting
Title pdf ppt
EuroGenTest basic workshop on validation – October 2009 (Bologna) Mattocks CJ “Validation parameters: An introduction to measures of
test accuracy”
pdf(301KB)
 
EuroGenTest basic workshop on validation – October 2009 (Bologna) Mattocks CJ “Planning and managing validation: A Generic Validation proforma”
pdf(93KB)
 
EuroGenTest basic workshop on validation – October 2009 (Bologna) Mattocks CJ “Food for thought: Statistical limitations on the power of validation”
pdf(150KB)
 
EuroGenTest basic workshop on validation – October 2009 (Bologna) Mattocks CJ “Validation of mutliplex ligation-dependent probe amplification: A competitive hypothesis testing approach”
pdf(143KB)
 
BSH – April 2009 Mattocks CJ “Diagnostic application of next generation sequencing”    
BSHG White H "Non invasive prenatal detection of Down syndrome: an update and overview of the use of new genetic technologies"
pdf(1MB)
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BSHG White HE, Scott DJ, Hall VJ, Waghorn K, Sanders R, Foy CA, Cross NCP "Sensitive and quantitative detection of KIT D816V in patients with systemic mastocytosis using allele specific real time PCR and digital PCR"
pdf(1MB))
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RAPID Launch - July 2009 White H "Developing NIPD for fetal aneuploidy"
pdf(1MB)
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Antenatal newborn screening programme regional team meeting Feb 2009


White H " Non-invasive prenatal detection of Down syndrome"
pdf(1.25MB)
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2008

Meeting
Title pdf ppt
Clinical Molecular Genetics Society:
Diagnostic Applications of Clonal Sequencing

Mattocks C ."Next generation sequencing, targeting for diagnostic applications" (2.5MB)
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Genetic Screening: Society for Genomics Policy and Public Health - 3rd AGM White H. "New genetic technologies for non-invasive detection of Down syndrome" (1.0MB)
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9th Meeting on: Clinical Applications of Real Time PCR technology White H. "High resolution melting for analysis of methylation" (0.8MB)
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  White H. "The National Genetics Reference Lab ( Wessex): who are we and what do we do? " (1.2MB)
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ESHG  Mattocks C , Watkins G , Ward D , Janssens T , Matthijs G , Bosgoed E , van der Donk K , Scheffer H , Pot B 5, Theelen J 6, Aspholm T 6, Cross NCP : Inter-laboratory diagnostic validation of conformation sensitive capillary electrophoresis. European Journal of Human Genetics 2008;16 Suppl 2:333
(0.4MB)
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  Swinnen E, Bakker E, Barton DE, Berwouts S, Bossuyt P, Camajova J, Corveleyn A, Dequeker E, Janssens T, Macek Jr M, Mann I, Mattocks C, Morris M, Müller C, Pratt V, Salden I, Scheffer H, Stambergova A, Wallace A, Wilson JA, Zoccoli M, Matthijs G: Towards practical guidelines for validation of genetic diagnostic tests. European Journal of Human Genetics 2008;16 Suppl 2:430
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CMGS Mattocks C: Potential for diagnostic application of new sequencing technologies.

NB a ppt version of this download is provided to allow viewing of the presentation with animations. Access open as ‘read only’.
(0.6MB)
(1.3MB)
Human Genetics Commission 31st Plenary Meeting White H: “Non – invasive Prenatal Diagnosis Technical Challenges and Advances”
(0.3MB)
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European Society of Hematology 2008 White H:“Progress towards establishing BCR-ABL reference reagents”.
(0.3MB)
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  White HE, Hochhaus A, Müller M, Saglio G, Branford S, Hughes T, Gabert J, Wang YL, WalkerPeach C, Metcalfe P, Cross NCP: “Development of prototype reference reagents for BCR-ABL quantitative RT-PCR”
(0.4MB)
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Wessex Ante-Natally Detected Anomalies Register (WANDA) Meeting 2008 White H:“Non-invasive testing for Down’s syndrome - a simple blood test?”
(0.2MB)
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2007

Meeting
Title pdf ppt
BSHG Yearwood C, Schijvenaars M, Ward D, Mattocks C, Harvey J: Marfan syndrome: CSCE as a rapid sensitive technique for screening the FBN1 gene: J Med Genet 2007; 44 Suppl 1:S80
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  Hammond VN, Gerty SM, Sillibourne J, Ward D, Mattocks C, Simmonds P, Graham N, Armstrong M, Ecles DM: Inherited mutations in BRCA1 are much more frequent than in BRCA2 amoungst young breast cancer cases. J Med Genet 2007; 44 Suppl 1:S132
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  Wallace A, Barton D, van Bunderen PA, Duncan J, Dunlop J, Man S, MacPherson J, Monaghan G, McLuskey J, Norbury G, Patel Y, Powell H, Race V, Sweerney M, Thompson E, treacy R, Weiss MM, Williams N, White HE, Wymer B: A multicentre technology assessment of the Abbott fragile X assay. J Med Genet 2007; 44 Suppl 1:S86
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qPCR 2007 (March 2007, Munich) White H:“Potential applications of high resolution melt curve analysis for genetic diagnostics”
(0.2MB)
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Institute for Reference Materials and Measurements Sept 2007 White H:” Reference reagents for genetic testing: development of plasmid based mutation detection reagents by the UK National Genetics Reference Laboratory (Wessex)”.
(0.6MB)
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Roche User Group Meeting Oct 2007
White H:“ High resolution melting: potential applications for genetic diagnostics”.
(0.5MB)
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2006

Meeting
Title pdf ppt
SCOBEC training day White H: “New techniques for DNA methylation analysis" (1.3MB)  
BSHG Croft M, Crolla J, Differ AM, Burville-Holmes L, Maloney V, Turnpenny PD. Case report: Deletion 3q22.1-q23 with BPES and an AHO-like brachydactyly phenotype. J Med Genet 2006; 43 Suppl 1:S50
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  Hall VJ, Maloney VK, White HE, Liehr T, Volleth M, Barber JCK. The use of pyrosequencing to identify copy number variation of 16p11.2 in euchromatic variant carriers and the normal population. J Med Genet 2006; 43 Suppl 1:S98
(0.2MB)
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  Mattocks CJ, Ward D, Harvey JF, Cross NCP. Design and optimisation of a validated primer set for automated screening of the BRCA1 and BRCA2 genes. J Med Genet 2006; 43 Suppl 1:S73
(0.4MB)
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  Mattocks C, Ward D, Sillibourne J, Herbert T, Owen N, Wall M, Goddard P, Harvey JF, Cross NCP. Implementation of the SCOBEC high throughput screening facility. J Med Genet 2005; 42 Suppl 1:S90
(1MB)
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  Pearce B, Watts K, Maloney VK, Boyle T, Collinson M, Barber J. Insertion or inversion: that is the question. J Med Genet 2006; 43 Suppl 1:S99
(0.2MB)
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  Tatton Brown K, Barber J, Donaghue C, Maloney VK, Marks K, Tomkins S, Waits P, Rahman N, McEntagart M. A family with overgrowth associate with partial trisomy 15q. J Med Genet 2006; 43 Suppl 1:S52
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  White HE, Potts GL, Cross NCP. NGRL (Wessex) evaluation of high resolution melt curve analysis for mutation scanning. J Med Genet 2006; 43 Suppl 1:S85
(0.3MB)
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  White HE, Potts GL, Hall VJ, Owen N, Mattocks CJ, Cross NCP. Reference reagents for mutation scanning: development of plasmid based reagents by NGRL (Wessex). J Med Genet 2005; 42 Suppl 1:S85
(0.2MB)
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White HE, Hall VJ, Boyle T, Warner J, McLuskey J, Sibbring J, Hamilton S, Diack J, Allen S, Jones M, Cross NCP. NGRL (Wessex) evaluation of CE marked in vitro diagnostic test kits for prenatal diagnosis of aneuploidy. J Med Genet 2006; 43 Suppl 1:S91

(0.3MB)
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10th International Symposium on Biological and Environmental Reference Materials

White HE, Durston VJ, Potts GL, Harvey JF, Hawkins R, Stacey G, Cross NCP. Reference Reagents for Genetic Testing: Development of plasmid based mutation detection reagents by NGRL (Wessex)

(0.3MB)
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CMGS White HE, Taylor GR, Potts GL, Cross NCP, Taylor C. Evaluation of high resolution melt analysis for mutation scanning.
(0.5MB)
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  Campbell JK, White H, Pagan J, Godfrey C, Mein R, Moore D, Abbs S. Using the Reveal Genetic Mutation Discovery System (Spectrumedix) for mutation screening in a diagnostic laboratory.
(1.1MB)
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  Coupe AM, Thomas S, Mackay D, Bullman H, Harvey J. Analysis of a cohort of Russell Silver Syndrome patients for epigenetic changes at the H19DMR and KvDMR loci at 11p15.
(0.3MB)
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NGRL (Wessex) High throughput implementation day

Mattocks C: Batching for high throughput PCR setup.

NB a ppt version of this download is provided to allow viewing of the presentation with animations. Access open as ‘read only’.
(1MB)
(2.4MB)
2006 National Genetics Reference Laboratory (Wessex), Salisbury District Hospital, Salisbury SP2 8BJ; Tel: +44 (0)1722 429080; E-mail:ncpc@soton.ac.uk