Single-cell sequencing: Promises and challenges for human genetics

Varun K.A. Sreenivasan, Jana Henck, Malte Spielmann*

*Corresponding author for this work


Over the last decade, single-cell sequencing has transformed many fields. It has enabled the unbiased molecular phenotyping of even whole organisms with unprecedented cellular resolution. In the field of human genetics, where the phenotypic consequences of genetic and epigenetic alterations are of central concern, this transformative technology promises to functionally annotate every region in the human genome and all possible variants within them at a massive scale. In this review aimed at the clinicians in human genetics, we describe the current status of the field of single-cell sequencing and its role for human genetics, including how the technology works as well as how it is being applied to characterize and monitor diseases, to develop human cell atlases, and to annotate the genome.

Original languageEnglish
JournalMedizinische Genetik
Issue number4
Pages (from-to)261-273
Number of pages13
Publication statusPublished - 01.12.2022

Research Areas and Centers

  • Research Area: Medical Genetics

DFG Research Classification Scheme

  • 205-03 Human Genetics

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