Mutation scanning by massive sequencing

Author: G. De Bellis
Submitted: Sunday 5th of September 2010 08:56:51 AM
Submitted by: egf
Educational levels: expert, qc3


The availability of a reference human DNA sequence and high throughput technologies such as automated DNA sequencing has made the identification of sequence variations a key tool in several fields of modern biology. Resequencing of large sets of clinically relevant genes, in order to identify variants, is important for understanding the molecular basis of disease and, consequently, for developing diagnostic tests and identifying drug targets. Thus far, large resequencing projects have used a standard sequencing procedure in which gene fragments are amplified by PCR, purified and subjected individually to Sanger sequencing on both strands. The 454 GS-FLX massive sequencer has the potential to simplify this task. In this seminar I will present our results in the blind, automated search for sequence variations within 1) pools of PCR-amplified DNA from clinical samples employing massively parallel pyrosequencing. 2) Array captured human genomic regions as large as 10 Mb employing massively parallel pyrosequencing.


Similar resources


IMS Metadata


G. De Bellis. Mutation scanning by massive sequencing. EUROGENE portal. September 2010. online:

Terms of use

This work is licensed under a Creative Commons Attribution-Noncommercial-Share Alike 3.0 Unported License. Read more.