生物
变化(天文学)
比例(比率)
遗传变异
进化生物学
计算生物学
人类遗传变异
遗传学
人类基因组
基因
基因组
物理
量子力学
天体物理学
作者
Marcel Frenkel,Srivatsan Raman
标识
DOI:10.1016/j.tig.2024.03.010
摘要
Abstract
Population-scale sequencing efforts have catalogued substantial genetic variation in humans such that variant discovery dramatically outpaces interpretation. We discuss how single-cell sequencing is poised to reveal genetic mechanisms at a rate that may soon approach that of variant discovery. The functional genomics toolkit is sufficiently modular to systematically profile almost any type of variation within increasingly diverse contexts and with molecularly comprehensive and unbiased readouts. As a result, we can construct deep phenotypic atlases of variant effects that span the entire regulatory cascade. The same conceptual approach to interpreting genetic variation should be applied to engineering therapeutic cell states. In this way, variant mechanism discovery and cell state engineering will become reciprocating and iterative processes towards genomic medicine.
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