Evaluation of human gene variant detection in amplicon pools by the GS-FLX parallel Pyrosequencer (Articolo in rivista)

Type

• Articolo in rivista (Classe)
• Prodotto della ricerca (Classe)

Label

• Evaluation of human gene variant detection in amplicon pools by the GS-FLX parallel Pyrosequencer (Articolo in rivista) (literal)

Anno

• 2008-01-01T00:00:00+01:00 (literal)

Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#doi

• 10.1186/1471-2164-9-464 (literal)

Alternative label

• Roberta Bordoni , Raoul Bonnal , Ermanno Rizzi , Paola Carrera , Sara Benedetti , Laura Cremonesi , Stefania Stenirri , Alessio Colombo , Cristina Montrasio , Sara Bonalumi , Alberto Albertini , Luigi Rossi Bernardi , Maurizio Ferrari and Gianluca de (2008)
  Evaluation of human gene variant detection in amplicon pools by the GS-FLX parallel Pyrosequencer
  in BMC genomics
  (literal)

Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#autori

• Roberta Bordoni , Raoul Bonnal , Ermanno Rizzi , Paola Carrera , Sara Benedetti , Laura Cremonesi , Stefania Stenirri , Alessio Colombo , Cristina Montrasio , Sara Bonalumi , Alberto Albertini , Luigi Rossi Bernardi , Maurizio Ferrari and Gianluca de (literal)

Pagina inizio

• 464-1 (literal)

Pagina fine

• 464-8 (literal)

Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#numeroVolume

• 9 (literal)

Rivista

• BMC genomics (Rivista)

Note

• ISI Web of Science (WOS) (literal)

Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#affiliazioni

• 1. CNR, ITB, I-20090 Segrate, Italy 2. Ist Sci San Raffaele, Genom Unit Diag Human Pathol, I-20132 Milan, Italy 3. San Raffaele SpA, Lab Clin Mol Biol Diagnost & Ric, Milan, Italy 4. Univ Vita Salute San Raffaele, Milan, Italy (literal)

Titolo

• Evaluation of human gene variant detection in amplicon pools by the GS-FLX parallel Pyrosequencer (literal)

Abstract

• 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 previously identified by Sanger sequencing. The sequence variants included SNPs and small deletions and insertions (up to 44 bp), in homozygous or heterozygous state. Results: The DNA was combined in 4 pools containing from 27 to 164 amplicons and from 8,9 to 50,8 Kb to sequence for a total of 110 Kb. Pyrosequencing generated over 80 million base pairs of data. Blind searching for sequence variations with a specifically designed bioinformatics procedure identified 465 putative sequence variants, including 412 true variants, 53 false positives (in or adjacent to homopolymeric tracts), no false negatives. All known variants in positions covered with at least 30 x depth were correctly recognized. Conclusion: Massively parallel pyrosequencing may be used to simplify and speed the search for DNA variations in PCR products. Our results encourage further studies to evaluate molecular diagnostics applications. (literal)

Prodotto di

• Tecnologie ad Array e di sequenziamento massivo (PM.P06.009.001) (Modulo)

Autore CNR

• ROBERTA BORDONI (Unità di personale interno)
• GIANLUCA DE BELLIS (Persona)
• RAOUL JEAN PIERRE BONNAL (Persona)
• ERMANNO RIZZI (Unità di personale interno)

Incoming links:

Autore CNR di

• RAOUL JEAN PIERRE BONNAL (Persona)
• ROBERTA BORDONI (Unità di personale interno)
• ERMANNO RIZZI (Unità di personale interno)
• GIANLUCA DE BELLIS (Persona)

Prodotto

• Tecnologie ad Array e di sequenziamento massivo (PM.P06.009.001) (Modulo)

Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#rivistaDi

• BMC genomics (Rivista)