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Article

The role of single-cell genomics in human genetics.

Journal of medical genetics - 1 Sept 2022

Sreenivasan Varun K A, Balachandran Saranya, Spielmann Malte

Abstract excerpt

Single-cell sequencing is a powerful approach that can detect genetic alterations and their phenotypic consequences in the context of human development, with cellular resolution. Humans start out as single-cell zygotes and undergo fission and differentiation to develop into multicellular organisms. Before fertilisation and during development, the cellular genome acquires hundreds of mutations that propagate down...

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PMID: 35790352
DOI: 10.1136/jmedgenet-2022-108588
PMCID: PMC9411920

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