Cnvs - PowerPoint PPT Presentation

Global Variation in Copy Number in the Human Genome

Global Variation in Copy Number in the Human Genome. Presentation b y Julian Reoyo &amp; Andrea Pastores. Introduction/Background.

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217 views • 18 slides

Detection of Structural Variants (SVs) and Copy Number Variations (CNVs) on NGS Data

Detection of Structural Variants (SVs) and Copy Number Variations (CNVs) on NGS Data. SVs and CNVs. They are often confused… SVs: regions contain insertions and deletions ( indels ) or inversions. CNVs: regions appearing a different number of times in different individuals.

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131 views • 9 slides

1,275 ASD cases, 1,981 controls

1,275 ASD cases, 1,981 controls. Genotyped using Illumina 1M. QC + CNV calling (iPattern + QuantiSNP). As described in Pinto et al 2010. Filter out: i) low confidence CNVs (only 1 algorithm, &lt;30kb, &lt;5 probes) ii) non-Caucasian samples iii) common CNVs (&gt;1%). 2382 rare CNVs in 996 cases

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122 views • 1 slides

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