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From variant to function in human disease genetics
KTH, School of Engineering Sciences in Chemistry, Biotechnology and Health (CBH), Gene Technology. KTH, Centres, Science for Life Laboratory, SciLifeLab. New York Genome Center, New York, NY, United States.ORCID iD: 0000-0002-7746-8109
2021 (English)In: Science, ISSN 0036-8075, E-ISSN 1095-9203, Vol. 373, no 6562, p. 1464-1468Article, review/survey (Refereed) Published
Abstract [en]

Over the next decade, the primary challenge in human genetics will be to understand the biological mechanisms by which genetic variants influence phenotypes, including disease risk. Although the scale of this challenge is daunting, better methods for functional variant interpretation will have transformative consequences for disease diagnosis, risk prediction, and the development of new therapies. An array of new methods for characterizing variant impact at scale, using patient tissue samples as well as in vitro models, are already being applied to dissect variant mechanisms across a range of human cell types and environments. These approaches are also increasingly being deployed in clinical settings. We discuss the rationale, approaches, applications, and future outlook for characterizing the molecular and cellular effects of genetic variants.

Place, publisher, year, edition, pages
American Association for the Advancement of Science (AAAS) , 2021. Vol. 373, no 6562, p. 1464-1468
Keywords [en]
Disease, Gene Expression Regulation, Genetic Diseases, Inborn, Genetic Predisposition to Disease, Genetic Techniques, Genetic Variation, Genome, Human, Genome-Wide Association Study, Genomics, Humans, Molecular Sequence Annotation, Multifactorial Inheritance, Phenotype, Quantitative Trait Loci
National Category
Medical Genetics and Genomics
Identifiers
URN: urn:nbn:se:kth:diva-311821DOI: 10.1126/science.abi8207ISI: 000698977800041PubMedID: 34554789Scopus ID: 2-s2.0-85115796146OAI: oai:DiVA.org:kth-311821DiVA, id: diva2:1655850
Note

QC 20220504

Available from: 2022-05-04 Created: 2022-05-04 Last updated: 2025-02-10Bibliographically approved

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Lappalainen, Tuuli

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CiteExportLink to record
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Output format
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