Trends in molecular medicine, 2016-04, Vol.22 (4), p.341-351
2016
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Details
- Autor(en) / Beteiligte
- Titel
- Human Knockout Carriers: Dead, Diseased, Healthy, or Improved?
- Ist Teil von
- Trends in molecular medicine, 2016-04, Vol.22 (4), p.341-351
- Ort / Verlag
- England: Elsevier Ltd
- Erscheinungsjahr
- 2016
- Quelle
- MEDLINE
- Beschreibungen/Notizen
- Whole-genome and whole-exome sequence data from large numbers of individuals reveal that we all carry many variants predicted to inactivate genes (knockouts). This discovery raises questions about the phenotypic consequences of these knockouts and potentially allows us to study human gene function through the investigation of homozygous loss-of-function carriers. Here, we discuss strategies, recent results, and future prospects for large-scale human knockout studies. We examine their relevance to studying gene function, population genetics, and importantly, the implications for accurate clinical interpretations.
- Sprache
- Englisch
- Identifikatoren
- ISSN: 1471-4914eISSN: 1471-499XDOI: 10.1016/j.molmed.2016.02.006Titel-ID: cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_4826344
- Format
- –
- Schlagworte
- clinical interpretation, Computational Biology - methods, gene function, Gene Silencing, Genetic Association Studies, Genetic Predisposition to Disease, Genetic Testing, Genetics, Population, Genome, Human, Genome-Wide Association Study, Heterozygote, Humans, loss-of-function variants, Pathology, Phenotype, Review, Selection, Genetic