Sequencing and characterizing short tandem repeats in the human genome.

Autor: Tanudisastro HA; Centre for Population Genomics, Garvan Institute of Medical Research, Sydney, New South Wales, Australia.; Centre for Population Genomics, Murdoch Children's Research Institute, Melbourne, Victoria, Australia.; Faculty of Medicine and Health, University of New South Wales, Sydney, New South Wales, Australia.; Faculty of Medicine and Health, University of Sydney, Sydney, New South Wales, Australia., Deveson IW; Faculty of Medicine and Health, University of New South Wales, Sydney, New South Wales, Australia.; Genomics and Inherited Disease Program, Garvan Institute of Medical Research, Sydney, New South Wales, Australia., Dashnow H; Department of Human Genetics, University of Utah, Salt Lake City, UT, USA. h.dashnow@gmail.com., MacArthur DG; Centre for Population Genomics, Garvan Institute of Medical Research, Sydney, New South Wales, Australia. daniel.macarthur@populationgenomics.org.au.; Centre for Population Genomics, Murdoch Children's Research Institute, Melbourne, Victoria, Australia. daniel.macarthur@populationgenomics.org.au.; Faculty of Medicine and Health, University of New South Wales, Sydney, New South Wales, Australia. daniel.macarthur@populationgenomics.org.au.
Jazyk: angličtina
Zdroj: Nature reviews. Genetics [Nat Rev Genet] 2024 Jul; Vol. 25 (7), pp. 460-475. Date of Electronic Publication: 2024 Feb 16.
DOI: 10.1038/s41576-024-00692-3
Abstrakt: Short tandem repeats (STRs) are highly polymorphic sequences throughout the human genome that are composed of repeated copies of a 1-6-bp motif. Over 1 million variable STR loci are known, some of which regulate gene expression and influence complex traits, such as height. Moreover, variants in at least 60 STR loci cause genetic disorders, including Huntington disease and fragile X syndrome. Accurately identifying and genotyping STR variants is challenging, in particular mapping short reads to repetitive regions and inferring expanded repeat lengths. Recent advances in sequencing technology and computational tools for STR genotyping from sequencing data promise to help overcome this challenge and solve genetically unresolved cases and the 'missing heritability' of polygenic traits. Here, we compare STR genotyping methods, analytical tools and their applications to understand the effect of STR variation on health and disease. We identify emergent opportunities to refine genotyping and quality-control approaches as well as to integrate STRs into variant-calling workflows and large cohort analyses.
(© 2024. Springer Nature Limited.)
Databáze: MEDLINE
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