CNV analysis using TaqMan copy number assays

Current Protocols in Human Genetics

Volumn , Issue SUPPL. 67, 2010, Pages

  Mayo, Ping ^a   Hartshorne, Toinette ^b   Li, Kelly ^b   McMunn Gibson, Chara ^a   Spencer, Kylee ^a   Schnetz Boutaud, Nathalie ^a  

^a VANDERBILT UNIVERSITY SCHOOL OF MEDICINE   (United States)

^b APPLIED BIOSYSTEMS   (United States)

Author keywords

CNV; Copy number assays; TaqMan

Indexed keywords

GENOMIC DNA;

ASSAY; COPY NUMBER ASSAY; COPY NUMBER VARIATION; GENE EXPRESSION; GENE REARRANGEMENT; GENE SEQUENCE; GENETIC ASSOCIATION; GENETIC DISORDER; GENETIC POLYMORPHISM; GENOME ANALYSIS; HUMAN; HUMAN GENOME; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; REVIEW; TRANSCRIPTION REGULATION;

DNA COPY NUMBER VARIATIONS; GENOME, HUMAN; HUMANS; POLYMERASE CHAIN REACTION; POLYMORPHISM, GENETIC; POLYMORPHISM, SINGLE NUCLEOTIDE;

EID: 77957713180     PISSN: 19348266     EISSN: 19348258     Source Type: Journal    
DOI: 10.1002/0471142905.hg0213s67     Document Type: Review

References (6)

1. Hastings, P.J., Lupski, J.R., Rosenberg, S.M., and, Ira, G., 2009. Mechanisms of change in gene copy number. Nat. Rev. Genet. 10: 551 - 564.
2. Henrichsen, C.N., Chaignat, E., and, Reymond, A., 2009. Copy number variants, diseases and gene expression. Hum. Mol. Genet. 18: R1 - R8.
3. Stankiewicz, P., and, Lupski, J.R., 2010. Structural variation in the human genome and its role in disease. Annu. Rev. Med. 61: 437 - 455.
4. TaqMan Copy Number Assays Protocol. 2009. Applied Biosystems, Foster City, California.
5. Wang, K., Li, M., Hadley, D., Liu, R., Glessner, J., Grant, S.F., Hakonarson, H., and, Bucan, M., 2007. PennCNV: An integrated hidden Markov model designed for high-resolution copy number variation detection in whole-genome SNP genotyping data. Genome Res. 17: 1665 - 1674.
6. Xie, C., and, Tammi, M.T., 2009. CNV-seq, a new method to detect copy number variation using high-throughput sequencing. BMC Bioinformatics 10: 80.