title: Saliva is a reliable and practical source of germline DNA for genome-wide studies in chronic lymphocytic leukemia.
abstract: High-throughput genomics requires tumor DNA matched to germline DNA, that cannot be easily obtained in the context of leukemia. Using chronic lymphocytic leukemia as a model, saliva DNA was frequently devoid of tumor DNA also during overt disease, and passed quality controls for SNP-array (77/102, 75.4%) and next generation sequencing (71/102, 69.6%). Compared to saliva, urine provides germline DNA of similar quality but in lower amounts. Saliva DNA was successfully run on SNP 6.0 arrays, and passed quality control call rate thresholds. On these bases, saliva represents a useful source of germline DNA for high-throughput genomic studies of hematologic neoplasia.
authors.affiliation: Division of Hematology, Department of Clinical and Experimental Medicine, Amedeo Avogadro University of Eastern Piedmont, Novara, Italy.
authors.forename: Silvia
authors.initials: S
authors.lastname: Rasi
authors.forename: Alessio
authors.initials: A
authors.lastname: Bruscaggin
authors.forename: Andrea
authors.initials: A
authors.lastname: Rinaldi
authors.forename: Stefania
authors.initials: S
authors.lastname: Cresta
authors.forename: Marco
authors.initials: M
authors.lastname: Fangazio
authors.forename: Lorenzo
authors.initials: L
authors.lastname: De Paoli
authors.forename: Sara
authors.initials: S
authors.lastname: Monti
authors.forename: Ernesto
authors.initials: E
authors.lastname: Gargiulo
authors.forename: Ivo
authors.initials: I
authors.lastname: Kwee
authors.forename: Robin
authors.initials: R
authors.lastname: Foà
authors.forename: Francesco
authors.initials: F
authors.lastname: Bertoni
authors.forename: Gianluca
authors.initials: G
authors.lastname: Gaidano
authors.forename: Davide
authors.initials: D
authors.lastname: Rossi
mesh_terms: D004247:DNA / Q000652:urine; D015894:Genome, Human; D055106:Genome-Wide Association Study / Q000379:methods*; D023281:Genomics / Q000379:methods*; D057166:High-Throughput Screening Assays; D006801:Humans; D015451:Leukemia, Lymphocytic, Chronic, B-Cell / Q000235:genetics*; D020411:Oligonucleotide Array Sequence Analysis; D016133:Polymerase Chain Reaction; D020641:Polymorphism, Single Nucleotide; D012463:Saliva / Q000737:chemistry*; D017422:Sequence Analysis, DNA
chemical_list: D004247:DNA