Comments on: The rise of the rare variant http://blogs.discovermagazine.com/gnxp/2012/07/the-rise-of-the-rare-variant/ Mon, 20 May 2013 07:18:00 +0000 hourly 1 http://wordpress.org/?v=3.4.2 By: Dm http://blogs.discovermagazine.com/gnxp/2012/07/the-rise-of-the-rare-variant/#comment-43816 Dm Mon, 09 Jul 2012 19:21:43 +0000 http://blogs.discovermagazine.com/gnxp/?p=17206#comment-43816 Drats, none of the genes I want in the Nelson's target set! The Thomassen (NHLBI GO) exome dataset is pretty amazing, alas their funding has run out and they just finished uploading last bits and pieces in June ... nothing more to expect. The GO data are especially helpful with the (huge variety of) African American variants of sub-1% frequency, the AF range where 1000 Genomes couldn't venture. Alas, AFAICT there is nothing even remotely approaching it for S and SE Asians. The 1000 Genomes sequencing data aren't there yet, but when they trickle in (when?), they still won't have much impact even on your 1%-ers, let alone the rest of the tail of the frequency distribution :( Drats, none of the genes I want in the Nelson’s target set! The Thomassen (NHLBI GO) exome dataset is pretty amazing, alas their funding has run out and they just finished uploading last bits and pieces in June … nothing more to expect. The GO data are especially helpful with the (huge variety of) African American variants of sub-1% frequency, the AF range where 1000 Genomes couldn’t venture.

Alas, AFAICT there is nothing even remotely approaching it for S and SE Asians. The 1000 Genomes sequencing data aren’t there yet, but when they trickle in (when?), they still won’t have much impact even on your 1%-ers, let alone the rest of the tail of the frequency distribution :(

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