A 25-year odyssey of genomic technology advances and structural variant discovery.
| Autor: | Porubsky D; Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA 98195, USA., Eichler EE; Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA 98195, USA; Howard Hughes Medical Institute, University of Washington, Seattle, WA 98195, USA. Electronic address: ee3@uw.edu. |
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| Jazyk: | angličtina |
| Zdroj: | Cell [Cell] 2024 Feb 29; Vol. 187 (5), pp. 1024-1037. Date of Electronic Publication: 2024 Jan 29. |
| DOI: | 10.1016/j.cell.2024.01.002 |
| Abstrakt: | This perspective focuses on advances in genome technology over the last 25 years and their impact on germline variant discovery within the field of human genetics. The field has witnessed tremendous technological advances from microarrays to short-read sequencing and now long-read sequencing. Each technology has provided genome-wide access to different classes of human genetic variation. We are now on the verge of comprehensive variant detection of all forms of variation for the first time with a single assay. We predict that this transition will further transform our understanding of human health and biology and, more importantly, provide novel insights into the dynamic mutational processes shaping our genomes. Competing Interests: Declaration of interests E.E.E. is a scientific advisory board (SAB) member of Variant Bio, Inc. D.P. has previously disclosed a patent application (no. EP19169090) relevant to Strand-seq. (Copyright © 2024 Elsevier Inc. All rights reserved.) |
| Databáze: | MEDLINE |
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