2nd Course in The integration of cytogenetics, microarrays and massive sequencing in biomedical and clinical research - C

Submitted: Monday 4th of October 2010 07:21:04 AM
Submitted by: egf
Language: English
Educational levels: expert, qc3

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Abstract

Part C of the 2nd Course in The integration of cytogenetics, microarrays and massive sequencing in biomedical and clinical research

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Array based chromosomal genomic hybridisation (array CGH) has dramatically increased the level of resolution for detection of DNA copy number alterations. Further challenges now emerge through the simultaneous availability of transcriptome, miRNAome and epigenome profiles. One particular daunting ta ...
The rapid advance of the Human Genome Project has lead to the identification the 30,000-35,000 genes that make up our genetic complement. The combination of this sequence information and advances in microarray technology has opened up the possibility of highly parallel genome-wide investigations of ...
Many single nucleotide polymorphisms (SNPs) have been identified in the human genome. These normal variations have been particularly useful in the study of loss of heterozygosity (LOH) in cancer, in linkage studies of patterns of familial inheritance and in the search for low penetrance genes associ ...
I will present novel array approaches to screen whole SC genomes with increased sensitivity and specificity for chromosomal imbalances: (1) averaging intensity ratios across chromosomes enables accurate detection of aneuploidies, (2) likelihood estimation for copy number variations (CNV) using arra ...

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