PT Journal
AU Sreenivasan, VKA
   Henck, J
   Spielmann, M
TI Single-cell sequencing: promises and challenges for human genetics
SO Medizinische Genetik : Mitteilungsblatt des Berufsverbandes Medizinische Genetik e.V
PY 2022
BP 261
EP 273
VL 34
IS 4
PU Walter de Gruyter GmbH
DI 10.1515/medgen-2022-2156
WP https://macau.uni-kiel.de/receive/macau_mods_00006036
LA de
DE Human genetics; Therapy; Phenotyping; Diagnostics; Crispr; Single-cell Sequencing; Cellular Composition; Cell Atlas; Disease Characterization; Saturation Gene Editing
SN 0936-5931
AB 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.
PI Berlin; Ulm; Gräfelfing; München; Würzburg; Heidelberg
ER