Article
Mutation detection using automated fluorescence-based sequencing.
Current protocols in human genetics - 1 Apr 2008
Montgomery Kate T, Iartchouck Oleg, Li Li, Perera Anoja, Yassin Yosuf, Tamburino Alex, Loomis Stephanie, Kucherlapati Raju
Abstract excerpt
The development of high-throughput DNA sequencing techniques has made direct DNA sequencing of PCR-amplified genomic DNA a rapid and economical approach to the identification of polymorphisms that may play a role in disease. Point mutations as well as small insertions or deletions are readily identified by DNA sequencing. The mutations may be heterozygous (occurring in one allele while the other allele retains...
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