Theming recognizing validating sequencing


01-Nov-2017 18:08

Some composers of music for animated cartoons used leitmotifs.

Carl Stalling did the play-it-once thing in Bugs Bunny cartoons, quoting well-known pieces of music: "Powerhouse" for a factory, "The Lady in Red" when Bugs Bunny dressed up as a woman, etc.

He called it “genetic nurturing” and I love the concept.

He also offered a few memorable quotes during his talk; my favorite was, “In human genetics, your competitor always becomes your collaborator.” Much of the ASHG conversation of course, was driven by Illumina.

At their lunch symposium, CSO Ryan Taft touted clinical WGS as “one test to rule them all” — a single assay for detecting SNPs, indels, repeat expansions (an area of active software development at the company, i.e.

Expansion Hunter), and large structural/copy number variants.

The conference was well-covered on the #ASHG17 hashtag as usual, but I also compiled detailed notes that I’ll share here.

The obvious theme of this meeting, from my point of view, was the rise of clinical genome sequencing in patients with inherited disease.

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Array results were “not accessible” at time of referral.At the beginning it might be heard in a jaunty rhythm as Popeye walks down the street.When he eats spinach, it is played fast and loud by a trio of trumpets, and then during the resolution it becomes a heroic march.Although I’m personally dubious about the ultimate ability of short-read sequencing to fully characterize large repeat expansions like fragile X and C9orf72, Taft sounded optimistic.

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He also shared some vignettes from the i Hope network, an initiative to provide clinical WGS pro bono to families who can’t afford genetic testing.I encounter the term motif in composition books, and still have no idea what a motif is.