Imagine an RNA molecule keeping company with an RNA editing enzyme, both inside a sealed box. If no observer is able to witness an editing event, will it ever really occur?

Lior Pachter(UC Berkeley) did not go quite so far as this Gedankenexperiment in teasing the audience atCold Spring Harbor's Biology of Genomes 2012 conference, but did make the provocative claim that it may never be possible to call with certainty individual RNA editing events.

Uncertainty principles abounded inDebbie Nickerson's (University of Washington) invited presentation onexome sequencing:跟我exomics已被证明是相当成功的ndelian disorders, but will its application to complex traits – that she and others are now undertaking – pay off? Fellow speakerMark McCarthyhas calculated that 20k-30k exomes will be needed to achieve sufficient power for Type II Diabetes genetic association studies.

尼克森（Nickerson）的演讲是一个与基因组生物学研究演变相似的职业生涯中引人入胜的曲折。科学著名，一部分造影学（Barbara McClintockon how to handle science's alpha males: "Forget 'em!"), part-cutting edge genomics…and a puzzling slide featuring a gnome (cryptic depiction of a genome harboring a deleterious deletion?).

Nickerson emphasized the value of ensuring her exome sequencing data are readily available to other researchers, as she has done with theExome Variant Server. This data sharing spirit was also apparent in a number of talks making use of1000 Genomes,ENCODEormodENCODEdatasets – clear evidence that large data collections are increasingly informing the discourse of genome biology, whatever one thinks about the cost effectiveness of "big science" data generation consortia.

While ENCODE and the like have sequenced DNA purified from vast numbers of cells, other presenters showed the potential of single cell sequencing as a new angle for characterizing processes such as meitoic recombination and tumor evolution.Elaine Mardis(WUSTL) andPaul Spellman(LBL) countered that high quality data and well thought out analytical approaches can also provide important insights into tumor evolution, and without the sample mass limitations of current single cell sequencing methods.

The meeting's talks spanned a pleasingly broad spectrum of topics – from shaggy dog stories (genetics of fur color) to assertions that reports of the Y chromosome's certain death have likely been exaggerated. The power of science as a tool to unravel the human story was impressively laid out byJonathan Pritchard（芝加哥大学），Jeff Kidd(University of Michigan) andSimon Myers（牛津大学）。迈尔斯（Myers）对混合痕迹和录音历史之间的协同作用的闪闪发光探索使观众沉迷并以多汁的夏洛克·霍尔姆斯·库姆（Sherlock Holmes-Cum-Csi）“ a-ha！”感到高兴。瞬间，通过成吉思汗和亚历山大大帝 - 两名男性遗传学家肯定会忘记了这两个alpha男性。