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Advances in the discovery and analyses of human tandem repeats.
Chaisson, Mark J P; Sulovari, Arvis; Valdmanis, Paul N; Miller, Danny E; Eichler, Evan E.
Afiliación
  • Chaisson MJP; Department of Quantitative and Computational Biology, University of Southern California, Los Angeles, CA 90089, U.S.A.
  • Sulovari A; The Genomic and Epigenomic Regulation Program, USC Norris Cancer Center, University of Southern California, Los Angeles, CA 90089, U.S.A.
  • Valdmanis PN; Computational Biology, Cajal Neuroscience Inc, Seattle, WA 98102, U.S.A.
  • Miller DE; Division of Medical Genetics, Department of Medicine, University of Washington School of Medicine, Seattle, WA 98195, U.S.A.
  • Eichler EE; Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA 98195, U.S.A.
Emerg Top Life Sci ; 7(3): 361-381, 2023 Dec 14.
Article en En | MEDLINE | ID: mdl-37905568
Long-read sequencing platforms provide unparalleled access to the structure and composition of all classes of tandemly repeated DNA from STRs to satellite arrays. This review summarizes our current understanding of their organization within the human genome, their importance with respect to disease, as well as the advances and challenges in understanding their genetic diversity and functional effects. Novel computational methods are being developed to visualize and associate these complex patterns of human variation with disease, expression, and epigenetic differences. We predict accurate characterization of this repeat-rich form of human variation will become increasingly relevant to both basic and clinical human genetics.
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: ADN / Secuencias Repetidas en Tándem Límite: Humans Idioma: En Revista: Emerg Top Life Sci Año: 2023 Tipo del documento: Article País de afiliación: Estados Unidos Pais de publicación: Reino Unido
Texto completo
Añadir a Mi BVS
Imprimir
XML
PubMed Links
Buscar en Google

Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: ADN / Secuencias Repetidas en Tándem Límite: Humans Idioma: En Revista: Emerg Top Life Sci Año: 2023 Tipo del documento: Article País de afiliación: Estados Unidos Pais de publicación: Reino Unido