Copy Number Variations (CNV)

Submitted: Saturday 31st of July 2010 05:05:20 PM
Submitted by: egf
Language: English
Educational levels: expert, qc1, qc2, qc3

Abstract

This resource contains materials from advanced courses of cytogenetics and it is especially focused on DNA Copy Number Variations Analysis.

Resources

We have recently published the screening of micro-deletions/duplications in 50 patients with learning disability and dysmorphic features using microarray-based comparative genomic hybridization (CGH) at 1-Mb resolution (Shaw-Smith et al, 2004). In this study, we detected subtle copy number changes - ...
We have recently published the screening of micro-deletions/duplications in 50 patients with learning disability and dysmorphic features using microarray-based comparative genomic hybridization (CGH) at 1-Mb resolution (Shaw-Smith et al, 2004). In this study, we detected subtle copy number changes - ...
a lecture about Copy Number Variation in the Human Genome by R. Redon from 2006
Copy number variation (CNV) within the human genome is of functional importance and yet remains grossly under-ascertained. To generate a CNV map of the human genome, we have previously screened all 270 individuals from the HapMap (phase I) populations, using two complementary microarray technologies ...
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 ...
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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