Cargando…
Hi-Plex for high-throughput mutation screening: application to the breast cancer susceptibility gene PALB2
BACKGROUND: Massively parallel sequencing (MPS) has revolutionised biomedical research and offers enormous capacity for clinical application. We previously reported Hi-Plex, a streamlined highly-multiplexed PCR-MPS approach, allowing a given library to be sequenced with both the Ion Torrent and TruS...
Autores principales: | Nguyen-Dumont, Tú, Teo, Zhi L, Pope, Bernard J, Hammet, Fleur, Mahmoodi, Maryam, Tsimiklis, Helen, Sabbaghian, Nelly, Tischkowitz, Marc, Foulkes, William D, Giles, Graham G, Hopper, John L, Southey, Melissa C, Park, Daniel J |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
BioMed Central
2013
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3829211/ https://www.ncbi.nlm.nih.gov/pubmed/24206657 http://dx.doi.org/10.1186/1755-8794-6-48 |
Ejemplares similares
-
Expanded genetic analysis of a PALB2 c.3113G>A mutation carrying multiple-case breast cancer family via exome sequencing
por: Teo, ZL, et al.
Publicado: (2012) -
A PALB2 mutation associated with high risk of breast cancer
por: Southey, Melissa C, et al.
Publicado: (2010) -
Targeted massively parallel sequencing characterises the mutation spectrum of PALB2 in breast and ovarian cancer cases from Poland and Ukraine
por: Myszka, Aleksander, et al.
Publicado: (2017) -
Is RNASEL:p.Glu265* a modifier of early-onset breast cancer risk for carriers of high-risk mutations?
por: Nguyen-Dumont, Tú, et al.
Publicado: (2018) -
Population-Based Estimates of the Age-Specific Cumulative Risk of Breast Cancer for Pathogenic Variants in CHEK2: Findings from the Australian Breast Cancer Family Registry
por: Nguyen-Dumont, Tú, et al.
Publicado: (2021)