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Variant Calling Workshop

Variant Calling Workshop

Variant Calling Workshop. Chris Fields. Powerpoint by Casey Hanson. Introduction. In this lab, we will do the following: Perform variant calling analysis on the IGB biocluster . Visualize our results on the desktop using the Integrative Genomics Viewer ( IGV ) tool.

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417 views • 28 slides
Sequence variations

Sequence variations

SNPs Mutations Haplotypes. Sequence variations. http://www.ebi.ac.uk/mutations/. How much variation in human genome?. 3000 Mb; a SNP every 1kb = 3 milj. Underestimate? Rare ones might be the most interesting 40 000 genes x 100 variants = 4 milj. slow build-up

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352 views • 23 slides
Summary stats for SNP density, 1mb windows (2,754 windows, no unbridged gaps)

Summary stats for SNP density, 1mb windows (2,754 windows, no unbridged gaps)

Summary stats for SNP density, 1mb windows (2,754 windows, no unbridged gaps). *using base coverage, feature coverage never finishes. ** Sums reflect regions smaller than window size being thrown out. SNP density 100kb windows (28,442). dbSNP 126 has 12million SNPs, including randoms , etc.

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335 views • 20 slides
in a quality perspective

in a quality perspective

in a quality perspective. Alamut. Gene browser over 18,000+ human protein-coding genes Advanced visualization of gene-related annotations Integration of prediction tools Variant management and reporting HGVS nomenclature compliancy. Alamut. Ref . Genome. Conservation.

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295 views • 16 slides
The 1000 Genomes Project

The 1000 Genomes Project

The 1000 Genomes Project. Current 1April 2009. Overview. Making personal genomics possible A short history of the effects of disruptive sequencing technology From 1 to 1001: The goals and science of the 1000 Genomes Project Bioinformatics infrastructure requirements (hint: they are large)

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769 views • 13 slides

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