Genomic Study of Congenital Malformation
Recruitment status was: Recruiting
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.
Please refer to this study by its ClinicalTrials.gov identifier: NCT01250613
|China Medical University Hospital|
|Taichung, Taiwan, 406|