000K utf8 1100 $c2022 1500 eng 2050 urn:nbn:de:gbv:8:3-2025-00501-6 2051 10.1515/medgen-2022-2156 3000 Sreenivasan, Varun K A 3010 Henck, Jana 3010 Spielmann, Malte 4000 Single-cell sequencing: promises and challenges for human genetics$hWalter de Gruyter GmbH [Sreenivasan, Varun K A] 4030 $nWalter de Gruyter GmbH 4209 Over the last decade, single-cell sequencing has transformed many fields. It has enabled the unbiased molecular phenotyping of even whole organisms with unprecedented cellular resolution. In the field of human genetics, where the phenotypic consequences of genetic and epigenetic alterations are of central concern, this transformative technology promises to functionally annotate every region in the human genome and all possible variants within them at a massive scale. In this review aimed at the clinicians in human genetics, we describe the current status of the field of single-cell sequencing and its role for human genetics, including how the technology works as well as how it is being applied to characterize and monitor diseases, to develop human cell atlases, and to annotate the genome. 4950 https://doi.org/10.1515/medgen-2022-2156$xR$3Volltext$534 4950 https://nbn-resolving.org/urn:nbn:de:gbv:8:3-2025-00501-6$xR$3Volltext$534 4961 https://macau.uni-kiel.de/receive/macau_mods_00006036 5051 570 5051 610 5550 Cell Atlas 5550 Cellular Composition 5550 Crispr 5550 Diagnostics 5550 Disease Characterization 5550 Human genetics 5550 Phenotyping 5550 Saturation Gene Editing 5550 Single-cell Sequencing 5550 Therapy