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Typus
KomplettPlagiat
Bearbeiter
Hindemith
Gesichtet
Yes.png
Untersuchte Arbeit:
Seite: 85, Zeilen: 1-14
Quelle: Shchelochkov et al 2009
Seite(n): 1101, Zeilen: l.col: 29 ff.
Genomic rearrangements describe mutational changes that alter genome structure (e.g., duplication, deletion, insertion, and inversion). These are different from the traditional mutation caused by Watson–Crick base pair alterations. Each of these rearrangements, excepting inversions, result in copy number variation (CNV) or change from the usual copy number of two for a given genomic segment or genetic locus of our diploid genome. Genomic rearrangements can represent polymorphisms that are neutral in function, or may produce abnormal phenotypes. The pathological conditions caused by genomic rearrangements are collectively defined as genomic disorders (Lupski 1998 and 2009). Due to the limited resolution of conventional cytogenetic techniques, the majority of genomic disorders were missed in the past, because the genomic rearrangements were not cytogenetically visible. However, high-resolution array comparative genomic hybridization (aCGH) techniques have revolutionized the approach to diagnosis of genomic disorders, and enabled the screen of the entire human genome for CNVs. Genomic rearrangements describe mutational changes that alter genome structure (e.g., duplication, deletion, insertion, and inversion). These are different from the traditional mutation caused by Watson–Crick base pair alterations. Each of these rearrangements, excepting inversions, result in copy number variation (CNV) or change from the usual copy number of two for a given genomic segment or genetic locus of our diploid genome. Genomic rearrangements can represent polymorphisms that are neutral in function, or may produce abnormal phenotypes. The pathological conditions caused by genomic rearrangements are collectively defined as genomic disorders [Lupski, 1998, 2009]. Due to the limited resolution of conventional cytogenetic techniques, the majority of genomic disorders were missed in the past, because the genomic rearrangements were not cytogenetically visible. However, high-resolution array comparative genomic hybridization (aCGH) techniques have revolutionized the approach to diagnosis of genomic disorders, and enabled the screen of the entire human genome for CNVs.
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Sichter
(Hindemith), SleepyHollow02

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