Single-cell Sequencing: Promises and Challenges for Human Genetics

Overview

Journal Med Genet

Publisher De Gruyter

Specialties Genetics
Medical Ethics

Date 2024 Jun 5

PMID 38836091

Authors

Varun K A Sreenivasan

Jana Henck

Malte Spielmann

Affiliations

Soon will be listed here.

Abstract

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.

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