Genomic Study of Congenital Malformation
Recruitment status was Recruiting
Genomic aberrations in patients diagnosed as congenital malformation with unknown etiology will be identified using high-density oligonucleotide array.
Genomic Aberrations in Patients Diagnosed as Congenital Malformation With Unknown Etiology
|Study Design:||Observational Model: Family-Based
Time Perspective: Retrospective
|Official Title:||Genomic Study of Congenital Malformation|
|Study Start Date:||June 2010|
The Affymetrix GeneChip® Human Mapping SNP 6.0 array, includes more than 900,000 SNP probes plus more than 900,000 CNV probes in a single chip, can provide high density makers information for the human genome. The median inter-marker distance is 670 bases and the average inter-marker distance is 1.67 kb, and the resolution can be as high as 200 kb. The Affymetrix® Cytogenetics Whole-Genome 2.7M Array gives the greatest power to detect known and novel chromosome aberrations across the entire genome. In addition, the whole-genome array includes 400,000 single nucleotide polymorphisms (SNPs) to enable the detection of loss of heterozygosity (LOH), uniparental disomy (UPD), and regions identical-by-descent.
If we are able to identify the candidate genomic regions that are associated with the congenital malformation/syndrome, we may have a better chance to understand the pathogenesis of congenital malformation/syndrome as well as the mechanisms underlying the abnormal chromosome rare diseases. The results from this study can also facilitate the clinical diagnosis and provide genetic basis for consultation.
|China Medical University Hospital||Recruiting|
|Taichung, Taiwan, 406|
|Contact: Fuu-Jen Tsai, PHD 886-4-22052121 ext 2107 email@example.com|