Single-cell sequencing: Promises and challenges for human genetics

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

*Korrespondierende/r Autor/-in für diese Arbeit

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.

OriginalspracheEnglisch
ZeitschriftMedizinische Genetik
Jahrgang34
Ausgabenummer4
Seiten (von - bis)261-273
Seitenumfang13
ISSN0936-5931
DOIs
PublikationsstatusVeröffentlicht - 01.12.2022

Strategische Forschungsbereiche und Zentren

  • Querschnittsbereich: Medizinische Genetik

DFG-Fachsystematik

  • 205-03 Humangenetik

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