Evaluation of MassCleave™ Technology For Diagnostic Mutation ...

11.01.2013 • Views

Share Embed Flag

Evaluation of MassCleave™ Technology For Diagnostic Mutation ...

Evaluation of MassCleave™ Technology For Diagnostic Mutation ...

DOWNLOAD ePAPER

ngrl.org.uk

You also want an ePaper? Increase the reach of your titles

YUMPU automatically turns print PDFs into web optimized ePapers that Google loves.

START NOW

Acknowledgements<br />

NGRL (Wessex)<br />

Helen White<br />

Niels Storm<br />

Susan Muller

1
2
3
4
5
6
7
8
9
10
11
12
13
14
15
16
17
18
19

(Wessex) Technology Assessment ChromoQuantâ¢ (version 1)

Conformation Sensitive Capillary Electrophoresis February 2007 ...

Analysis of BRCA and HNPCC mutations

TM10-S1-3 Taylor.pdf

Accurate Detection and Quantitation of Heteroplasmic Mitochondrial ...

Multi-platform comparison for array-CGH in diagnostic - National ...

Colin Graham, Belfast

Conformation Sensitive Capillary Electrophoresis Conformation ...

Technical challenges in non-invasive prenatal diagnosis

MCADD splicing mutations identified in newborns with an abnormal ...

New arrays for structural abnormality

The National Genetics Reference Lab (Wessex): who are we and ...

Methylation-Sensitive High-Resolution Melting-Curve Analysis of the ...

transmitted review jmg.pdf - National Genetics Reference Laboratories

Analysis of sequence data in the cancer genome project

Acknowledgements NGRL (Wessex) Helen White Niels Storm Susan Muller

Preliminary report available at http://www.ngrl.co.uk/Wessex/maldi_t<strong>of</strong>.htm http:// www.ngrl.co.uk/Wessex/maldi_t<strong>of</strong>.htm

Page 1 and 2: Evaluation of MassCleave MassCleave
Page 3 and 4: MassCleave MassCleave Evaluation
Page 5 and 6: Mutation type Insertion Deletion He
Page 7 and 8: Frameshifts not flagged �� 3819
Page 9 and 10: Frameshifts not flagged �� 4184
Page 11 and 12: 2731 ins T T-reverse T reverse
Page 13 and 14: 3450 del CAAG T-forward T forward
Page 15 and 16: Summary �� Design non-optimal n
Page 17: �� Larger study Further work