Copy Number/ Structural Variation
Strategies for the detection of copy number and other structural variants in the human genome
... of structural variants have been accompanied by a host of newly developed technologies and methodologies, with many of these latest-generation techniques being cur- rently implemented and continually improved ...
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Genetic and genomic stability across lymphoblastoid cell line expansions
... to structural instability in the transformation process [9], and other genomic regions are vulnerable to loss of het- erozygosity in later passages (≥ 50) [10]; our analysis of structural variation ...
5
Expanding the genetic basis of copy number variation in familial breast cancer
... of structural variation involving re- gions of duplication or deletion of genomic material that can encompass large stretches of genomic sequence ran- ging from megabases (Mbs) to a few kilobases (Kb) in ...
10
Genomic copy number variation association study in Caucasian patients with nonsyndromic cryptorchidism
... that structural variation is more commonly associated with syndromic cryptorchidism, but our inability to validate the candidate CNVs in this analysis suggests that these variants are not a major cause of ...
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Role of Copy Number Variants in Structural Birth Defects
... isolated structural defects of the craniofacial, respiratory, renal, and cardiac systems were ...CNV, copy number variation, array comparative genomic hybridization, birth defects, ...
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Parasite-host interaction in malaria: genetic clues and copy number variation
... a number of genes that mediate relative protection against the severest forms of the ...human variation in ...of structural alterations in these genes on either side of the host-parasite ...
7
CNVs Associated with Susceptibility to Cancers: A Mini Review
... on structural differences between individuals, and facilitate the identification of CNVs asso- ciated with cancer ...development. Copy number variation (CNV) and copy number ...
10
Copy number variation of human AMY1 is a minor contributor to variation in salivary amylase expression and activity
... AMY1 copy number measurement method than the qPCR methods previously ...that copy number plays much less of a role in salivary amylase expression and activity than has been previously ...
6
Biological Role and Disease Impact of Copy Number Variation in Complex Disease
... deleted copy number (CN) one or duplicated CN three or four may be maternal or paternal with the corresponding bases in the segment causing different impact, especially in imprinted ...maternal copy ...
201
Genomic copy number variation analysis in multiple system atrophy
... Genomic variation includes single-nucleotide variants, small insertions or deletions (indels), and copy number variants ...more variation than can individual single- nucleotide variations that ...
11
Copy number variation analysis increases the diagnostic yield in muscle diseases
... Objective: Copy number variants (CNVs) were analyzed from next-generation sequencing data, with the aim of improving diagnostic yield in skeletal muscle disorder cases.. Methods: Four pu[r] ...
6
Human amylase gene copy number variation as a determinant of metabolic state
... AMY1 copy number, and the findings of other studies which used similar techniques must inevitably also be questioned [52, ...AMY1 copy number and lower obesity risk which was stronger in ...
40
Original Article RET mutation and expression in small cell lung cancer
... Abstract: RET is a paradigm of a single gene that causes different types of human neuroendocrine cancers and non-small cell lung cancer, but the role for RET in the development of SCLCs was however not widely addressed. ...
7
Copy number variation in the Framingham Heart Study
... substantial work remains to be done. It is this lack of agreement that represents the principal lesson to be drawn from the current study. Normalization is regarded as an important, but somewhat routine step in analyses ...
6
Extensive copy-number variation of the human olfactory receptor gene family.
... one copy of each chromosome, in an order that we shuffled randomly before generating each of the 5,000 simulated ...large number of possible start positions were picked randomly within that single imaginary ...
53
BIRC5 Genomic Copy Number Variation in Early-Onset Breast Cancer
... There are several factors that can affect breast cancer prognosis. One of these factors is gene copy number variation (CNV) [2,3] . CNV changes have been introduced as an influential feature in human ...
5
Copy number variation in Han Chinese individuals with autism spectrum disorder
... genetic variation in order to accurately identify new, po- tentially causal ...and copy number changes, microarrays still remain the gold standard for CNV ...
7
Total copy number variation as a prognostic factor in adult astrocytoma subtypes
... total copy number variation (CNV), total mutation burden, chromothripsis, specific mutations, and amplifications/ deletions of specific genes/chromosomal ...higher number of cases with ...
13
K13 mutations and pfmdr1 copy number variation in Plasmodium falciparum malaria in Myanmar
... Background: Artemisinin-based combination therapy has been first-line treatment for falciparum malaria in Myan- mar since 2005. The wide extent of artemisinin resistance in the Greater Mekong sub-region and the presence ...
7
Association between copy number variation of complement component C4 and Graves' disease
... Complement component C4 (C4), located on chromo- some 6q21.3, is encoded by 2 separate loci in the major histocompatibility complex class III region and derives 2 functionally distinct C4A and C4B isoforms [8]. The ...
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