An Atlas of Variant Effects to understand the genome at nucleotide resolution
dc.contributor.author | Fowler, DM | |
dc.contributor.author | Adams, DJ | |
dc.contributor.author | Gloyn, AL | |
dc.contributor.author | Hahn, WC | |
dc.contributor.author | Marks, DS | |
dc.contributor.author | Muffley, LA | |
dc.contributor.author | Neal, JT | |
dc.contributor.author | Roth, FP | |
dc.contributor.author | Rubin, AF | |
dc.contributor.author | Starita, LM | |
dc.contributor.author | Hurles, ME | |
dc.date.accessioned | 2023-11-16T14:16:21Z | |
dc.date.issued | 2023-07-03 | |
dc.date.updated | 2023-11-16T13:14:36Z | |
dc.description.abstract | Sequencing has revealed hundreds of millions of human genetic variants, and continued efforts will only add to this variant avalanche. Insufficient information exists to interpret the effects of most variants, limiting opportunities for precision medicine and comprehension of genome function. A solution lies in experimental assessment of the functional effect of variants, which can reveal their biological and clinical impact. However, variant effect assays have generally been undertaken reactively for individual variants only after and, in most cases long after, their first observation. Now, multiplexed assays of variant effect can characterise massive numbers of variants simultaneously, yielding variant effect maps that reveal the function of every possible single nucleotide change in a gene or regulatory element. Generating maps for every protein encoding gene and regulatory element in the human genome would create an 'Atlas' of variant effect maps and transform our understanding of genetics and usher in a new era of nucleotide-resolution functional knowledge of the genome. An Atlas would reveal the fundamental biology of the human genome, inform human evolution, empower the development and use of therapeutics and maximize the utility of genomics for diagnosing and treating disease. The Atlas of Variant Effects Alliance is an international collaborative group comprising hundreds of researchers, technologists and clinicians dedicated to realising an Atlas of Variant Effects to help deliver on the promise of genomics. | en_GB |
dc.format.extent | 147- | |
dc.format.medium | Electronic | |
dc.identifier.citation | Vol. 24, article 147 | en_GB |
dc.identifier.doi | https://doi.org/10.1186/s13059-023-02986-x | |
dc.identifier.uri | http://hdl.handle.net/10871/134564 | |
dc.language.iso | en | en_GB |
dc.publisher | BMC | en_GB |
dc.relation.url | https://www.ncbi.nlm.nih.gov/pubmed/37394429 | en_GB |
dc.rights | © The Author(s) 2023. Open Access This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons licence, and indicate if changes were made. The images or other third party material in this article are included in the article’s Creative Commons licence, unless indicated otherwise in a credit line to the mate rial. If material is not included in the article’s Creative Commons licence and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this licence, visit http://creativecommons.org/licenses/by/4.0/. The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/) applies to the data made available in this article, unless otherwise stated in a credit line to the data | en_GB |
dc.subject | Functional genomics | en_GB |
dc.subject | Genome interpretation | en_GB |
dc.subject | Global alliance | en_GB |
dc.subject | Multiplexed assay of variant effect | en_GB |
dc.subject | Saturation mutagenesis | en_GB |
dc.subject | Variant effect | en_GB |
dc.title | An Atlas of Variant Effects to understand the genome at nucleotide resolution | en_GB |
dc.type | Article | en_GB |
dc.date.available | 2023-11-16T14:16:21Z | |
dc.identifier.issn | 1474-760X | |
exeter.article-number | 147 | |
exeter.place-of-publication | England | |
dc.description | This is the final version. Available on open access from BMC via the DOI in this record | en_GB |
dc.identifier.eissn | 1474-760X | |
dc.identifier.journal | Genome Biology | en_GB |
dc.relation.ispartof | Genome Biol, 24(1) | |
dc.rights.uri | https://creativecommons.org/licenses/by/4.0/ | en_GB |
dcterms.dateAccepted | 2023-06-13 | |
dc.rights.license | CC BY | |
rioxxterms.version | VoR | en_GB |
rioxxterms.licenseref.startdate | 2023-07-03 | |
rioxxterms.type | Journal Article/Review | en_GB |
refterms.dateFCD | 2023-11-16T14:15:08Z | |
refterms.versionFCD | VoR | |
refterms.dateFOA | 2023-11-16T14:16:27Z | |
refterms.panel | A | en_GB |
refterms.dateFirstOnline | 2023-07-03 |
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