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