Cargando…
Accurate, high-throughput typing of copy number variation using paralogue ratios from dispersed repeats
Recent work has demonstrated an unexpected prevalence of copy number variation in the human genome, and has highlighted the part this variation may play in predisposition to common phenotypes. Some important genes vary in number over a high range (e.g. DEFB4, which commonly varies between two and se...
Autores principales: | Armour, John A. L., Palla, Raquel, Zeeuwen, Patrick L. J. M., den Heijer, Martin, Schalkwijk, Joost, Hollox, Edward J. |
---|---|
Formato: | Texto |
Lenguaje: | English |
Publicado: |
Oxford University Press
2007
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1807953/ https://www.ncbi.nlm.nih.gov/pubmed/17175532 http://dx.doi.org/10.1093/nar/gkl1089 |
Ejemplares similares
-
Automated design of paralogue ratio test assays for the accurate and rapid typing of copy number variation
por: Veal, Colin D., et al.
Publicado: (2013) -
Hybridization modeling of oligonucleotide SNP arrays for accurate DNA copy number estimation
por: Wan, Lin, et al.
Publicado: (2009) -
Detecting common copy number variants in high-throughput sequencing data by using JointSLM algorithm
por: Magi, Alberto, et al.
Publicado: (2011) -
FACETS: allele-specific copy number and clonal heterogeneity analysis tool for high-throughput DNA sequencing
por: Shen, Ronglai, et al.
Publicado: (2016) -
Accurate in silico confirmation of rare copy number variant calls from exome sequencing data using transfer learning
por: Tan, Renjie, et al.
Publicado: (2022)