cnvClTriosBeaty12 Track Settings
 
Putative CNVs in parent-offspring trios ascertained on cleft lip/palate offspring

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Data schema/format description and download
Assembly: Human Feb. 2009 (GRCh37/hg19)
Data last updated at UCSC: 2014-01-29 11:50:17

Description

Intervals of putative copy number variation, identified from among a sample of parents and offspring with cleft lip/palate, are displayed on this track. Blue represents a deletion, and red represents an insertion. Note that the parents do not have cleft lip/palate. CNVs in parents are indicated with "_par" in the name, and offspring are indicated with "_off".

Methods

Probe intensity data among parent-offspring trios were generated using the Illumina 610K quad array at the Center for Inherited Disease Research at Johns Hopkins University. The hidden Markov model implemented in the software package PennCNV was used to identify putative copy number variation.

Credits

Terri H. Beaty, Alan F. Scott, Ingo Ruczinski, Holger Schwender, Robert B. Scharpf, Samuel G. Younkin

References

K. Wang, M. Li, D. Hadley, R. Liu, J. Glessner, S. F. A. Grant, H. Hakonarson, and M. Bucan, "PennCNV: an integrated hidden markov model designed for high-resolution copy number variation detection in whole-genome SNP genotyping data.," Genome Res, vol. 17, pp. 1665-1674, Nov 2007