Two rarities seldom seen by Bostonians are the American Society of Human Genetics Annual Meeting (akaASHG）和棒球世界系列。前者是60年前的1953年的波士顿 -the year of the double helix。后者是成年男子之间的一场竞赛 - 如一群令人眼花of乱的胡须阵容所证明 - 扮演某种圆形的衍生品，自1918年以来，该市的红袜队没有赢得过本地草皮的胜利。ASHG的距离超过了将所有四个基地覆盖的任务。也就是说，DNA碱基A，C，G和T。

Mo' data, mo' solutions?

ASHG 2013最具创造力的会议标题肯定是“ MO”数据，Mo'问题？但是，这次会议的一个更大的主题是，我们才开始如何才开始击中解决人类遗传学中许多最有先见之明的问题所需的样本量。新近可用的数据集拥有数以万计的外来，为分析复杂的特质遗传力和全球人群的更广泛采样提供了急需的力量 - 让我们称其为“人类”，为什么不这样做！- 和...一起n> 10K产生了解构人口统计学历史所需的稀有变体的景观。

这些变体在多大程度上非常普遍，但在每种情况下都消失了，造成复杂的特征是一个重要的问题，希望数据扩展最终能够解决。

莫'比一种感觉

What some may view as an embarrassment of riches when it comes to data for others is just… well, an embarrassment. Relying on less than robust stats, many 'causal' variants had been claimed from GWAS and other omics studies that even their very discoverers are now skeptical about: intuition and a trend, it seems, are not enough. In a session focused on the logging of clinical variants, one questioner even asked what facilities databases are going to provide for repentant researchers wishing to retract claims of disease association for a given locus.

Even where intuition does not make mistakes, it can narrow our scope.马克·维达尔（Marc Vidal）结果表明，文献报道的蛋白质 - 蛋白质相互作用可能会偏向于被认为可能发生的研究人员测试的结合事件，在其全系统蛋白质组的相互作用调查中没有表现出任何特殊富集。

Mo'功能，Mo'Stypes

关联的强大统计是第一步，但是当我们可以指出变体的功能后果时，遗传学确实变得活跃。越来越多的群体通过检查功能基因组学和通过表型模型的生物敲除来实现这一目标。

在哪里编码data had taken center stage at previous ASHG meetings, a new kid was on the block this time around: theGTEX财团的数据匹配的基因型基因的前女友pression and in doing so catalogs eQTLs at a vast scale. When complemented by other regulatory data, such as that produced by ENCODE or路线图表观基因组学项目，，，，the impact of variation on gene expression – as a first step to function – can be quantified.

Model species enable the easy manipulation of genes for whole-organism phenotyping in a way that would not be deemed ethical in human populations (ASHG's session on gene therapy notwithstanding), and in recent months their study has benefitted frompowerful new genome editing toolsderived from the CRISPR/Cas9 system.

However, human geneticists dissatisfied with making cross-species assumptions, and too impatient for the large sample sizes needed for convincing GWAS, have a get out – a bunt, a pinch-hitter: twins. In a session bookended by沃尔特·南斯（Walter Nance）and蒂姆·斯佩克（Tim Spector），会议听到了如何twin studies允许对人类的性状进行大幅度减少的样本量研究，以至于新数据生成的重点是增加数据类型的数量，而不是源个人的数量。

Even mo' data

The ascendancy of single-cell studies is a notable trend within genomics.Aviv Regevand加里·诺兰（Garry Nolan）closed the meeting with presentations demonstrating the importance of single-cell approaches to truly understanding the molecular biology of cells, with an instructive example of bimodal expression patterns that are averaged out by traditional methodologies. Of course, single cells present us with a data problem, as not only are we now saying that tens of thousands of individuals must be sampled, but also large numbers of cells from within these individuals.

但是，会议听说，将个体分解为多个基因组对于理解人类疾病至关重要，因为体细胞镶嵌在癌症中猖ramp，在复杂的遗传疾病中也很常见，如Nazneen Rahmanand黛比·尼克森。

是否有信念遗传决定论的基因？

红袜队的世界大赛对手圣路易斯红雀队并不是阿什（Ashg）镇上唯一的中西部人，这要归功于有争议的Comedienne Kathy Griffin的坑口。格里芬曾经问总统竞争者米歇尔·巴赫曼（Michelle Bachmann）她是“天生的偏执狂”还是“成为一个人”，因此显然对复杂特征的遗传力有很长的兴趣。

但是，如果有一个偏执的基因 - 我们的抗原决定者会对这个想法的想法how叫，我们应该对其进行测试，甚至寻求治愈它？诸如此类的道德问题，尽管我将允许大部分假设始终构成ASHG的核心，这是重要的临床出勤。

Geneticists at the coal face (that is, who use genetics to treat real people) tend to view the subject through a prism dominated by ethical quandaries. But that is not to say that researchers outside of the clinical sphere cannot also be inspired by ethics.

加紧Nathan Pearson，正在开发协作的个人基因组学平台。皮尔逊无情地解释了波士顿本地肯尼迪国际机场：“不要问您的基因组可以为您做什么，而是它可以为社会做什么！”房子里没有干眼睛。