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CNValidator assesses the quality of somatic copy number calls based on coherency of haplotypes across multiple samples from the same individual. It is applicable to any copy number calling algorithm which makes calls independently for each sample. This test is useful in assessing the accuracy of copy number calls, as well as choosing among alternative copy number algorithms or tuning parameter values.
This article was published in the following journal.
Name: Bioinformatics (Oxford, England)
The basis of cancer biology is built upon two fundamental processes that result in uncontrolled cell proliferation and tumor formation: loss of tumor suppressor gene function and gain of oncogene func...
Copy number variants (CNVs) and copy neutral loss of heterozygosity (CN-LOH) represent important types of genomic abnormalities in cancer. Genomic DNA microarray serves as the current gold standard me...
Vitamin D plays an important role in insulin secretion. As the enzyme that initiates degradation of the active metabolite of vitamin D (1,25-(OH)2D), 24-hydroxylase encoded by CYP24A1 may be associate...
Chromosomal copy number aberrations can be efficiently detected and quantified using low-coverage whole-genome sequencing (lcWGS), but analysis is hampered by the lack of knowledge on absolute DNA cop...
The evolution of the Major Histocompatibility Complex (MHC) is shaped by frequent gene duplications and deletions, which generate extensive variation in the number of loci (gene copies) between differ...
Sarcopenia is the decline of muscle mass and strength with age. Evidence suggests that oxidative stress and molecular inflammation play important roles in age-related muscle atrophy. The t...
The interpersonal problems of adolescents with ADHD may be the most debilitating aspect of their psychopathologic behaviour. This being said, the investigators still do not have a clear un...
The purpose of this study is to evaluate the effectiveness of a new cognitive behavioural therapy (CBT) group for individuals with a somatic symptom disorder (i.e., Somatic Symptom and Rel...
In this, here we want to present a new method for analysis variation in gene copy number for patients and carriers of SMA. This is a relative quantitation method and, therefore, relies on ...
Individuals with low copy numbers of salivary amylase gene have lower salivary amylase levels and might therefore have decreased capacity to metabolize starch into glucose. We will in a ra...
Stretches of genomic DNA that exist in different multiples between individuals. Many copy number variations have been associated with susceptibility or resistance to disease.
Compositions written by hand, as one written before the invention or adoption of printing. A manuscript may also refer to a handwritten copy of an ancient author. A manuscript may be handwritten or typewritten as distinguished from a printed copy, especially the copy of a writer's work from which printed copies are made. (Webster, 3d ed)
A selective increase in the number of copies of a gene coding for a specific protein without a proportional increase in other genes. It occurs naturally via the excision of a copy of the repeating sequence from the chromosome and its extrachromosomal replication in a plasmid, or via the production of an RNA transcript of the entire repeating sequence of ribosomal RNA followed by the reverse transcription of the molecule to produce an additional copy of the original DNA sequence. Laboratory techniques have been introduced for inducing disproportional replication by unequal crossing over, uptake of DNA from lysed cells, or generation of extrachromosomal sequences from rolling circle replication.
A type of CELL NUCLEUS division by means of which the two daughter nuclei normally receive identical complements of the number of CHROMOSOMES of the somatic cells of the species.
A copy number variation that results in reduced GENE DOSAGE due to any loss-of-function mutation. The loss of heterozygosity is associated with abnormal phenotypes or diseased states because the remaining gene is insufficient.