Results 41 to 50 of about 125,484 (288)
Detection of RB1 Gene Copy Number Variations Using a Multiplex Ligation-Dependent Probe Amplification Method [PDF]
, 2021 Multiplex ligation-dependent probe amplification (MLPA) is based on simultaneous multiplex PCR of specific probes that hybridize to multiple different target DNA regions. The method can identify copy number changes, gross gene rearrangements, methylation
Dalay, Nejat
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Systematic biases in DNA copy number originate from isolation procedures [PDF]
, 2013 BACKGROUND: The ability to accurately detect DNA copy number variation in both a sensitive and quantitative manner is important in many research areas.
Cuppen, E. +23 more
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Identification of Ethnically Specific Genetic Variations in Pan-Asian Ethnos [PDF]
Genomics & Informatics, 2014 Asian populations contain a variety of ethnic groups that have ethnically specific genetic differences. Ethnic variants may be highly relevant in disease and human differentiation studies.
Jin Ok Yang +7 more
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A genetic risk score for glioblastoma multiforme based on copy number variations
Cancer Treatment and Research Communications, 2021 Glioblastoma multiforme is the most common form of brain cancer. Several lines of evidence suggest that glioblastoma multiforme has a genetic basis. A genetic test that could identify people who are at high risk of developing glioblastoma multiforme ...
Charmeine Ko, James P. Brody
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Increased DNA Copy Number Variation Mosaicism in Elderly Human Brain [PDF]
Neural Plasticity, 2018 Aging is a complex process strongly determined by genetics. Previous reports have shown that the genome of neuronal cells displays somatic genomic mosaicism including DNA copy number variations (CNVs). CNVs represent a significant source of genetic variation in the human genome and have been implicated in several disorders and complex traits ...
Darine Villela +6 more
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Estimating Shared Copy Number Aberrations for Array CGH Data: The Linear-Median Method [PDF]
, 2010 Motivation: Existing methods for estimating copy number variations in array comparative genomic hybridization (aCGH) data are limited to estimations of the gain/loss of chromosome regions for single sample analysis.
V. Baladandayuthapani +3 more
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Regional variation in mitochondrial DNA copy number in mouse brain
Biochimica et Biophysica Acta (BBA) - Bioenergetics, 2011 Mitochondria have their own DNA (mitochondrial DNA [mtDNA]). Although mtDNA copy number is dependent on tissues and its decrease is associated with various neuromuscular diseases, detailed distribution of mtDNA copies in the brain remains uncertain. Using real-time quantitative PCR assay, we examined regional variation in mtDNA copy number in 39 brain ...
Fuke, Satoshi +4 more
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Frontiers in Endocrinology, 2021 Insulinomatosis is characterized by monohormonality of multiple macro-tumors and micro-tumors that arise synchronously and metachronously in all regions of the pancreas, and often recurring hypoglycemia. One of the main characteristics of insulinomatosis
Kirill Anoshkin +13 more
doaj +1 more source
Ribosomal DNA copy number loss and sequence variation in cancer
PLOS Genetics, 2017 Ribosomal DNA is one of the most variable regions in the human genome with respect to copy number. Despite the importance of rDNA for cellular function, we know virtually nothing about what governs its copy number, stability, and sequence in the mammalian genome due to challenges associated with mapping and analysis.
Baoshan Xu +9 more
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DNA copy number variations – Do these big mutations have a big effect on cardiovascular risk? [PDF]
, 2019 In simple terms, copy number variations or CNVs are replications or deletions in the DNA which, in humans, changes it from the normal number of two gene copies.
Charchar, Fadi +2 more
core +2 more sources