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Eric T.
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96 followers
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What is the UCSF500?
Precision medicine is more than genome sequencing, but molecular profiling is an essential part of it. Recognizing this, in 2014 UC San Francisco launched the Genomic Medicine Initiative to bring high-throughput DNA and RNA sequencing techniques into routin...
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Our peer-review paper on CNVkit is live on PLOS Computational Biology!
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My group at UCSF is looking for a bioinformatics programmer (i.e. a software developer interested in biomedical science) to work on our clinical cancer genomics initiative: http://bit.ly/1J3il8S (req # 43884BR)
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New from my group at UCSF, cataloguing the canonical routes of melanoma progression in terms of the genetic mutations that drive each step.
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"Exome sequencing of desmoplastic melanoma identifies recurrent NFKBIE promoter mutations and diverse activating mutations in the MAPK pathway" (Nature Genetics) - new from my lab at UCSF.

Note: Sequencing exomes and target panels wouldn't have found the promoter mutation except that the gene model for NFKBIE was wrong -- the first few "exons" in RefSeq are not usually transcribed! But since they were listed as exons in the database, we included them in the target capture, and by luck deep-sequenced a promoter containing a mutational hotspot in this cancer sub-type.
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From my group at UCSF: "Activating MET kinase rearrangements in melanoma and Spitz tumours" (Nature Communications) -- in which we explore the oncogenic potential of kinase fusion proteins.
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Alameda on a windy day.
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