April 2022
Beginner to intermediate
486 pages
10h 22m
Chinese
Content preview from 云端基因组学
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1
序
1985
年，大约是基因组学领域正式诞生的前一年，我从数学转到该领域。“基因组学”
（
genomics
）这个词造于
1986
年。同年，研究者在美国纽约长岛冷泉港实验室（
Cold
Spring Harbor Laboratory
），围绕开展人类基因组计划（
Human Genome Project
）
这一构想，展开第一场公开辩论。
自那时起发生了多大变化，可真是难以想象。当时，生物医学几乎没有想到要用计
算机，美国白头生物医学研究所（
Whitehead Institute for Biomedical Research
）成
立于
20
世纪
80
年代初，其最初规划未打算提供计算机。大量数据在当时看来是件
麻烦事而不是资产，在一篇报道上述辩论的《自然》期刊文章中，其生物学栏目的
编辑写道，“如果现代生物学的技能和独创性已延伸至解释已知非常重要的序列，
如
DMD
和
CGD
基因序列，那么更多序列又有什么可能的用途呢？”
尽管存在诸如此类的质疑，生物学家最终还是决定继续推进该计划，并最终于
1990
年启动人类基因组计划，开始首次大型数据采集工作。该计划的一个重要动机是采
用系统化方法（而不是凭猜测）发现人类的致病基因。
1980
年，杰出的生物学家
David Botstein
提出一个新想法：通过追踪基因在相关家族的遗传机制，并将其与
人类基因组的
DNA
变异基因图谱做比较，以找到罕见单基因遗传病（
monogenic
disease
）致病基因的位置。然而，要实现该想法，需要为整个人类基因组制图和测序。
人类基因组计划是一项卓越的合作计划 ...
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I'm always learning. So when I got on to O'Reilly, I was like a kid in a candy store. There are playlists. There are answers. There's on-demand training. It's worth its weight in gold, in terms of what it allows me to do.