Article
Evaluation of human gene variant detection in amplicon pools by the GS-FLX parallel Pyrosequencer.
BMC genomics - 8 Oct 2008
Bordoni Roberta, Bonnal Raoul, Rizzi Ermanno, Carrera Paola, Benedetti Sara, Cremonesi Laura, Stenirri Stefania, Colombo Alessio, Montrasio Cristina, Bonalumi Sara, Albertini Alberto, Bernardi Luigi Rossi, Ferrari Maurizio, De Bellis Gianluca
Abstract excerpt
BACKGROUND: A new priority in genome research is large-scale resequencing of genes to understand the molecular basis of hereditary disease and cancer. We assessed the ability of massively parallel pyrosequencing to identify sequence variants in pools. From a large collection of human PCR samples we selected 343 PCR products belonging to 16 disease genes and including a large spectrum of sequence variations...
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