Single-cell Genomics Meets Human Genetics

Overview

Journal Nat Rev Genet

Specialty Genetics

Date 2023 Apr 21

PMID 37085594

Authors

Anna S E Cuomo

Aparna Nathan

Soumya Raychaudhuri

Daniel G MacArthur

Joseph E Powell

Affiliations

Soon will be listed here.

Abstract

Single-cell genomic technologies are revealing the cellular composition, identities and states in tissues at unprecedented resolution. They have now scaled to the point that it is possible to query samples at the population level, across thousands of individuals. Combining single-cell information with genotype data at this scale provides opportunities to link genetic variation to the cellular processes underpinning key aspects of human biology and disease. This strategy has potential implications for disease diagnosis, risk prediction and development of therapeutic solutions. But, effectively integrating large-scale single-cell genomic data, genetic variation and additional phenotypic data will require advances in data generation and analysis methods. As single-cell genetics begins to emerge as a field in its own right, we review its current state and the challenges and opportunities ahead.

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