Mark Gerstein
Yale U., New Haven, CT, USA
Over the past few years the Stanford-Yale CEGS has developed a number
of technologies using next generation sequencing for studying human
variation and doing human genome functional annotation. Much of these
technologies have come together in the Test Sample Project. Here, I
will present some of these technologies and then talk a little bit
about the test sample analysis. The technologies presented include
analysis of structural variation in the genome from paired-ends,
read-depth and split-reads. They also include pipelines for the
analysis of RNA-Seq data and ChIP-seq datasets and approaches to
relate these functional genomics data to human genome variation.
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