Estimating copy number from sequencing platforms -- overview of methods (CoNIFER, xHMM, ngCGH)

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  • Опубліковано 16 вер 2024
  • www.biodiscovery.com
    Demand for obtaining copy number variations from sequencing data is increasing, and as a result many algorithms have recently been developed to perform this function. Some algorithms are better suited for certain types of data (e.g. detecting low frequency events in a population vs. individual cancer samples) and each has its benefits and drawbacks. Today's presentation will provide some background information on common methodologies and includes discussion on sources of noise and how to correct for them (e.g. SVD, systematic correction to remove GC biases), how to obtain BAF from NGS data, and how to integrate copy number and sequence variant data. An overview of a few of the commonly used algorithms (CoNIFER, xHMM, ngCGH) for estimating CNVs from sequencing data will be provided. Real-world examples will show the workflow used to derive copy number using ngCGH and CoNIFER for analysis and visualization in Nexus Copy Number software. A live demo of Nexus will show how CNV from NGS can be visualized and further analyzed in Nexus Copy Number and how it can be integrated with sequence variants to provide a more complete picture of genomic aberrations.
    Audience
    This webinar is geared towards those who are interested in obtaining copy number from sequencing data and in integrating sequence variants with copy number for downstream analysis.

КОМЕНТАРІ • 2

  • @stevenlovesscience
    @stevenlovesscience 10 років тому +2

    WOuld be MUCH better if you had higher quality audio.

  • @GuntherKen-j8x
    @GuntherKen-j8x 20 годин тому

    Clark Maria Gonzalez David Smith James