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