DE NOVO POINT MUTATIONS and Copy Number Variations CNVs

Saturday, July 12, 2008

CNVs vs SNPs: Understanding Human Structural Variation in Disease

Advancing paternal age causes copy number variations Science Webinar: CNVs vs SNPs July 12, 2008
Posted by Bertalan Meskó in Webinar, science.
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Science Magazine will organize a webinar about copy number variations and single nucleotide polymorphisms.



CNVs vs SNPs: Understanding Human Structural Variation in Disease

July 16, 2008 at 12 noon Eastern Time (9 a.m. Pacific, 4 p.m. GMT)

Genetic variation—differences in both the coding and noncoding portions of our DNA—is what makes each human being a unique individual. It also can determine our unique susceptibility to disease. Exhaustive analysis of human single nucleotide polymorphisms (SNPs) has led to the identification of interesting SNP markers for certain disorders. But these small changes are not the whole picture. Copy number variations (CNVs)—gain or loss of segments of genomic DNA relative to a reference—have also been shown to be associated with several complex and common disorders. Using array-based comparative genomic hybridization (CGH) techniques, CNVs at multiple loci can be assessed simultaneously allowing for their identification and characterization. CNV microarrays allow exploration of the genome for sources of variability beyond SNPs that could explain the strong genetic component of several of these disorders. Now, advances in microarray probe density have provided more comprehensive coverage of CNVs, enabling more in depth genotyping research.

You can register here!

Speakers:

Charles Lee, Ph.D., FACMG; Department of Pathology, Brigham and Women’s Hospital, Boston MA
Lars Feuk, Ph.D., The Centre for Applied Genomics; The Hospital for Sick Children, Toronto, Ontario
Alexandra I Blakemore, Ph.D., Division of Medicine, Imperial College London, United Kingdom
The moderator will be Sean Sanders, Ph.D., Commercial Editor, Science/AAAS.

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