NGRL-Wessex

Annual report

NGRL (Wessex) Annual Report 2005 (1MB)

NGRL News

November 2005 (0.3MB)

February 2006(0.2MB)

June 2006 (0.3MB)

November 2006 (0.2MB)

NGRL (Wessex) Reports and Application Notes

Title of Report	pdf	Word	Date Published
Armored RNA as reference material for standardisation of BCR-ABL RQ-PCR methods: report of field trial evaluation. Appendix B Appendix C	3.7MB	2.2MB	June 2008
Freeze dried cell lines as reference materials for standardisation of BCR-ABL RQ-PCR methods: report of field trial evaluation.	2MB	2MB	May 2008
Standarised primer optimisation and design specification. Application Note.	1.1MB	0.8MB	April 2008
Conformational Sensitive Capillary Electrophoresis. Application Note	1.1MB	1.3.MB	February 2007
ELUCIGENE QST*R (Tepnel Diagnostics) for in vitro quantitative detection of aneuploidy. Appendix 1 - 4 (2.0MB)	0.8MB	0.8MB	November 2006
Mutation scanning by high resolution melt curve analysis. Evaluation of Rotor-Gene 6000 (Corbett Life Science), HR-1 and 384 well LightScanner (Idaho Technology). Appendix 6 Appendix 7 Appendix 8	6.3MB	2.0MB	June 2006
Plasmid based generic mutation detection reference reagents; production and performance indicator field trial	2.7MB	4.5MB	January 2006
Production and field trial evaluation of reference reagents for mutation screening of BRCA1, BRCA2, hMLH1 and MSH2	1.4MB	1.0MB	January 2006
Evaluation of Pyrosequencing for quantitative analysis of CpG methylation at imprinted gene loci: analysis of SNRPN gene methylation as a model system	0.8MB	0.8MB	December 2005
Evaluation of ChromoQuant QF PCR kit (version 1) for the diagnosis of chromosomal aneuploidy	1.8MB	2.6MB	September 2005
Evaluation of ChromoQuant QF PCR kit (version 2) for the diagnosis of chromosomal aneuploidy	1.3MB	1.8MB	September 2005
Detection and estimation of heteroplasmy for mitochondrial mutations using NanoChip and Pyrosequencing technology	1.3MB	0.9MB	May 2005
Evaluation of automated DNA extraction methodologies	1.2MB	2.5MB	November 2004
Rapid methods to detect aneuploidy. Summary document	30KB	-	November 2004
Automated DNA Extraction Survey	0.1MB	85KB	November 2004
Evaluation of MassCLEAVE chemistry for diagnostic screening using MALDI-TOF Mass spectrometry	0.5MB	0.5MB	June 2004

Resources

Title	pdf	Word	Date Published
SOP for manual comparative sequence analysis	0.6MB	1MB	January 2004
Model for calculating the relative value of a pre-screen strategy with respect to sequencing. Explanatory Notes (pdf) and spreadsheet (Excel).	75KB	85KB	May 2005
Reference reagents: mRNA sequences with mutations annotated:	BRCA1 (75KB) BRCA2 (100KB) hMLH1 (60KB) hMSH2 (60KB)	BRCA1 (65KB) BRCA2 (100KB) hMLH1 (40KB) hMSH2 (40KB)	September 2003

Presentations and Posters

BSHG September 2006	pdf
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	-
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
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
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
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
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	-
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
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
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

10th International Symposium on Biological and Environmental Reference Materials May 2006	pdf
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

CMGS April 2006	pdf
White HE, Taylor GR, Potts GL, Cross NCP, Taylor C. Evaluation of high resolution melt analysis for mutation scanning.	0.5MB
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
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

BSHG September 2005	pdf
Eddy C, Boyle TA, Maloney V, Wellesley D, Crolla JA. Insertional interstitial duplication of 1(p34.3-p35.2). An association with co-arctation of the aorta and hypospadias? J Med Genet 2005; 42 Suppl 1:S77	2.7MB
Piper A, Boyle TA, Thomas NS, Maloney V. Prenatal detection of a maternally transmitted deletion of Xp. J Med Genet 2005; 42 Suppl 1:S77	0.8MB
Sandell S, Bunyan DJ, Durston VJ, White H, Bullman H, Connarty M, Thomas NS, Harvey JF. Analysis of both the H19 and KCNQ10T1 DMRs in Beckwith-Wiedemann Syndrome using two newly developed methylation specific PCRs. J Med Genet 2005; 42 Suppl 1:S107	75KB
Skinner A, Ashton EJ, Sillibourne J, Brown T, Collins AL, Bunyan DJ. A new approach for the identification of common point mutations within the dystrophin gene using MLPA. J Med Genet 2005; 42 Suppl 1:S100	0.1MB
Thomas S, Benito-Sanz S, Huber C, del Blanco DG, Aza-Carmona M, Crolla JA, Maloney V, Argente J, Campos-Barros A, Cormier-Daire V, Heath KE. Deletions 3` of the SHOX gene in patients with LWD suggest a novel position effect. J Med Genet 2005; 42 Suppl 1:S26	0.2MB
White H, Potts GL, Durston VJ, Harvey JF, Cross NCP. Reference reagents for genetic testing: development of mutation detection controls by NGRL (Wessex). J Med Genet 2005; 42 Suppl 1:S97	0.2MB
White H, Durston VJ, Harvey JF, Cross NCP. Evaluation of ChromoQuant in vitro diagnostic test kits (versions 1 and 2) for analysis of aneuploidy. J Med Genet 2005; 42 Suppl 1:S97	0.1MB

CMGS April 2005	pdf
Stacey Sandell, D Bunyan, V Durston, H White, H Bullman, M Connarty, S Thomas, J Harvey. Analysis of both the H19 and KCNQ10T2 DMRs in Beckwith-Wiedermann syndrome using two newly developed methylation specific PCRs.	0.2MB
Chris Mattocks, J Harvey, N Cross. Assay design: considerations for high throughput automation.	1.0MB
Vicky Durston, H White, J Harvey, N Cross. Use of pyrosequencing to analyse methylation differences at the SNRPN locus for the diagnosis of Prader-Willi and Angelman syndromes.	1.2MB
Helen White, J Harvey, N Cross. Evaluation of the ChromoQuant in vitro diagnostic test kit for analysis of aneuploidy.	0.7MB

BSHG September 2004	pdf
Wood O, Mattocks CJ, Sillibourne J, Owen N, Harvey JF, Cross NCP. Standardised Primer Optimisation and Design Specification (SPODS). J Med Genet 2004; 41 Suppl 1:S75	0.4MB
Mattocks CJ, Owen N, Harvey JF, Cross NCP. Evaluation of automated DNA extraction systems. J Med Genet 2004; 41 Suppl 1:S75	0.1MB
Mattocks CJ, White HE, Owen N, Durston V, Harvey JF, Cross NCP. An Evaluation of the MassCLEAVE biochemisty for diagnostic screening. J Med Genet 2004; 41 Suppl 1:S75	0.2MB
Bunyan D, Brown T, Wycherley R, Score J, Harvey JF, Cross NCP. MLPA-based point mutation analysis of the FBN1 gene in Marfan syndrome patients. J Med Genet 2004; 41 Suppl 1:S75	0.2MB
White HE, Durston VJ, Seller A, Fratter C, Harvey JF, Cross NCP. Detection and Estimation of Heteroplasmy for Mitochondrial Mutations using Nanochip® and Pyrosequencing™ Technology. J Med Genet 2004; 41 Suppl 1:S72	0.8MB
White HE, Durston VJ, Strike P, Deutsch S, Harvey JF, Cross NCP. Detection of chromosomal aneuploidy by paralogous gene quantification using Pyrosequencing™ PSQ 96MA system. J Med Genet 2004; 41 Suppl 1:S72	0.5MB
Copson E, White HE, Cross NCP, Eccles D, Robinson DO . Use of pyrosequencing technology to quantitate allele expression in patinets with BRCA1 mutations. J Med Genet 2004; 41 Suppl 1:S72	0.5MB

CMGS April 2004	pdf
Mattocks C, White HE, Harvey JF, Cross NCP. Evaluation of Strategies for High Throughput Screening of Large Genes:	1.1MB
Wood O, Bunyan DJ, Harvey JF, Cross NCP. Evaluation of the Invader® assay platform for molecular analysis of the Factor V (G1691A) and Factor II (G20210A) mutations	0.3MB
Durston VJ, White HE, Harvey JF, Cross NCP. Health technology assessments undertaken by NGRL (Wessex) in 2003.	0.9MB

BSHG September 2003	pdf
White HE, Durston VJ, Potts GL, Bunyan DJ, Harvey JF, Cross NCP. Evaluation of reference reagents for BRCA2 and HMLH1 mutation detection assays. J Med Genet 2003; 40 Suppl 1:S62	0.2MB
Mattocks CJ, Harvey JF, Cross NCP. An evaluation of the Autogen NA-3000 EU automatic nucleic acid isolation system. J Med Genet 2003; 40 Suppl 1:S78	1.0MB
Mattocks CJ, Tarpey P, Whittaker J, Harvey JF, Cross NCP. A Large Scale Validation of Prototype Software for High Throughput Comparative Sequence Analysis. J Med Genet 2003; 40 Suppl 1:S79	1.1MB

Other Publications

2007

E. Dicks, J. W. Teague, P. Stephens, K. Raine, A. Yates, C. Mattocks, P. Tarpey, A. Butler, A. Menzies, D. Richardson, A. Jenkinson, H. Davies, S. Edkins, S. Forbes, K. Gray, C. Greenman, R. Shepherd, M. R. Stratton, P. A. Futreal and R. Wooster. AutoCSA, an algorithm for high throughput DNA sequence variant detection in cancer genomes. Bioinformatics. 2007 Jul 1;23(13):1689-9. (0.2MB)

White HE, Hall VJ, Cross NCP. Methylation-Sensitive High-Resolution Melting-Curve Analysis of the SNRPN Gene as a Diagnostic Screen for Prader-Willi and Angelman Syndromes. Clinical Chemistry. 2007;53:1960-1962. (0.1MB)

2006

Barber JC, Maloney VK, Bewes B, Wakeling E. Deletions of 2q14 that include the homeobox engrailed 1 (EN1) transcription factor are compatible with a normal phenotype. Eur J Hum Genet 2006; 14(6):739-43. (0.1MB)

Bunyan DJ, SkinnerAC, Ashton EJ. , Sillibourne J, Brown T, Collins AL, Cross NCP, Harvey JF, Robinson DO. Simultaneous MLPA-Based Multiplex Point Mutation and Deletion Analysis of the Dystrophin Gene (0.3MB)

Cockwell AE, Maloney VK, Thomas NS, Smith EL, Gonda P, Bass P, Crolla JA. Molecular investigation of a dicentric 13;17 chromosome found in a 21-week gestation fetus with multiple congenital abnormalities. Cytogenet Genome Res. 2006;112:166-9.(0.2MB)

Copson ER, White HE, Blaydes JP, Robinson DO, Johnson PW, Eccles DM. Influence of the MDM2 single nucleotide polymorphism SNP309 on tumour development in BRCA1 mutation carriers. BMC Cancer 2006; 6:80 (24 March) (0.1MB)

Mackay DJ, Hahnemann JM, Boonen SE, Poerksen S, Bunyan DJ, White HE, Durston VJ, Thomas NS, Robinson DO, Shield JP, Clayton-Smith J, Temple IK. Epimutation of the TNDM locus and the Beckwith-Wiedemann syndrome centromeric locus in individuals with transient neonatal diabetes mellitus. Hum Genet. 2006;119:179-84.(0.3MB)

Mackay DJG, Boonen SE, Clayton Smith J, Goodship J, Hahnemann JM, Kant SG, Njolstad PR, Robin NH, Siebert JPH, Shield R, White HE, Temple IK. A maternal hypomethylation syndrome presenting as transient neonatal diabetes. Human Genetics 2006; 120(2): 262-269.

White HE, Durston VJ, Harvey JF, Cross NCP. Quantitative analysis of SNRPN gene methylation by Pyrosequencing as a diagnostic test for Prader Willi Syndrome and Angelman Syndrome. Clin Chem. 2006; 52(6):1005-13. (0.4MB)

2005

Alharbi KK, Aldahmesh MA, Spanakis E, Haddad L, Whittall RA, Chen XH, Rassoulian H, Smith MJ, Sillibourne J, Ball NJ, Graham NJ, Briggs PJ, Simpson IA, Phillips DI, Lawlor DA, Ye S, Humphries SE, Cooper C, Smith GD, Ebrahim S, Eccles DM, Day IN. Mutation scanning by meltMADGE: validations using BRCA1 and LDLR, and demonstration of the potential to identify severe, moderate, silent, rare, and paucimorphic mutations in the general population. Genome Res. 2005;15(7):967-77. (0.8MB)

Archer HL, Whatley SD, Evans JC, Ravine D, Huppke P, Bunyan DJ, Kerr AM, Kerr B, Sweeney E, Davies SJ, Reardon W, Horn J, Macdermot KD, Smith RA, Magee A, Donaldson A, Crow Y, Hermon G, Miedzybrodzka Z, Cooper DN, Lazarou L, Butler R, Sampson JR, Pilz DT, Laccone F and Clarke AJ. Gross rearrangements of the MECP2 gene are found in both classical and atypical Rett Syndrome. J Med Genet 2005;doi:10.1136/jmg.2005.033464. (0.3MB)

Barber JCK. Directly transmitted unbalanced chromosome abnormalities and euchromatic variants. J Med Genet 2005 42(8):609-29. (0.6MB)

Barber JCK, Maloney V, Hollox EJ, Stuke-Sontheimer A, du Bois G, Daumiller E, Klein-Vogler U, Dufke A, Armour JA, Liehr T. Duplications and copy number variants of 8p23.1 are cytogenetically indistinguishable but distinct at the molecular level. Eur J Hum Genet. 2005 ;13(10):1131-6. (0.2MB)

Charman T, Neilson TCS, Mash V, Archer H, Gardiner MT, Knudsen GPS, McDonnell A, Perry J, Whatley SD, Bunyan DJ, Ravn K, Mount RH, Hastings RP, Hulten M, Ørstavik KH, Reilly S, Cass H, Clarke A, Kerr AM and Bailey MES. (2005) Dimensional phenotypic analysis and functional categorisation of mutations reveal novel genotype-phenotype associations in Rett syndrome. Eur J Hum Genet. 2005;13:1121-1130.
(0.2MB)

Eccles DM, Bunyan DJ, Barker S and Castle B (2005) BRCA1 mutation and neuronal migration defect: implications for chemoprevention. J Med Genet;42(5):e24.(0.1MB)

Smith MJ, Pante-de-Sousa G, Alharbi KK, Chen XH, Day IN, Fox KR. Combination of His-tagged T4 endonuclease VII with microplate array diagonal gel electrophoresis for high-throughput mutation scanning. Clin Chem 2005;51(6):1043-6. (1.0MB)

White HE, Durston VJ, Seller A, Fratter C, Harvey JF, Cross NCP. Accurate Detection and Quantitation of Heteroplasmic Mitochondrial Point Mutations by Pyrosequencing. Genetic Testing 2005 9(3); 190-199. (0.3MB)

2004

Bunyan DJ, Eccles DM, Sillibourne J, Wilkins E, Thomas NS, Shea-Simmonds J, Duncan PJ, Curtis CE, Robinson DO, Harvey JF, Cross NC. Dosage analysis of cancer predisposition genes by Multiplex Ligation-Dependent Probe Amplification. Br J Cancer 2004;91(6):1155-1159. (0.1MB)

Chen XH, Rodriguez S, Hawe E, Talmud PJ, Miller GJ, Underhill P, Humphries SE, Day IN. Evidence of admixture from haplotyping in an epidemiological study of UK Caucasian males: implications for association analyses.Hum Hered. 2004;57(3):142-55. (0.3MB)

Harvey JF, Sampson JR. Mutation scanning for the clinical laboratory: DHPLC. Methods Mol Med. 2004;92:45-66. (0.7MB)

Pigatto F, Bateman A, Bunyan DJ, Strike P, Wilkins E, Curtis CE, Duncan PJ, May D, Nugent K, Eccles DM. Economic and practical factors in diagnosing HNPCC using clinical criteria, immunohistochemistry and microsatellite instability analysis. Hered Can Clin Pract 2004;2(4):175-84.(0.8MB)

Rodriguez S, Chen XH, Day IN.Typing dinucleotide repeat loci using microplate array diagonal gel electrophoresis: proof of principle. Electrophoresis. 2004 Apr;25(7-8):975-9. (0.2MB)

Thomas NS, Maloney V, Bass P, Mulik V, Wellesley D, Castle B. SHOX mutations in a family and a fetus with Langer mesomelic dwarfism. Am J Med Genet A. 2004;128:179-84. (0.2MB)