Mapping human cell phenotypes to genotypes with single-cell genomics

J. Gray Camp, Randall Platt, Barbara Treutlein

Research output: Contribution to journalReview articlepeer-review

60 Scopus citations


The cumulative activity of all of the body’s cells, with their myriad interactions, life histories, and environmental experiences, gives rise to a condition that is distinctly human and specific to each individual. It is an enduring goal to catalog our human cell types, to understand how they develop, how they vary between individuals, and how they fail in disease. Single-cell genomics has revolutionized this endeavor because sequencing-based methods provide a means to quantitatively annotate cell states on the basis of high-information content and high-throughput measurements. Together with advances in stem cell biology and gene editing, we are in the midst of a fascinating journey to understand the cellular phenotypes that compose human bodies and how the human genome is used to build and maintain each cell. Here, we will review recent advances into how single-cell genomics is being used to develop personalized phenotyping strategies that cross subcellular, cellular, and tissue scales to link our genome to our cumulative cellular phenotypes.

Original languageEnglish
Pages (from-to)1401-1405
Number of pages5
Issue number6460
StatePublished - 27 Sep 2019
Externally publishedYes


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