Sentences with phrase «of copy number»
The number and extent of copy number alterations, too, followed this trend.
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Another distinctive feature is its high rate of copy number and structural variants.
Instead, it led to contraction of copy number.
Genome - wide association analysis of copy number variation in recurrent depressive disorder.
«These tumors are genetically very complex, and we demonstrated this by showing just the sheer volume of copy number changes, and that there are multiple clones in a single metastases tumor, and changes in metabolism that reflects the tumor's ability to adapt.»
Results from the analysis confirmed previous findings of some copy number variants already associated with autism, but they also found a host of other genes (SHANK2, SYNGAP1, DLGAP2 and the X chromosome — linked DDX53 - PTCHD1 locus) in which mutations seem to be linked to autism.
Gerton hypothesized that cancer cells, which are highly proliferative and might need more than the usual amount of ribosomes, would select for expansion of copy number.
Some research teams over the past five years have used microarray or gene - chip technology to compare genomes and quickly scan them for variations of copy numbers on each chromosome.
The discovery came about while researchers were exploring and comparing the accumulation of copy number variants during great ape evolution.
Patterns in chaos Given the rarity of each copy number variation and genetic glitch in the autism population, «it's going to be tough to suggest that any one of those individually can contribute to the development of the disorder,» Gregory says.
The two Univerity of Washington studies, «Great ape genetic diversity and population history,» published in Nature, and «Evolution and diversity of copy number variation in the great ape lineage,» published in Genome Research, are funded by NIH grant HG002385 and support from the Howard Hughes Medical Institute.
«The lines drawn between different disorders are not related to the genes that predispose to the disorders,» Cantor notes, explaining that two children can present very similar behavioral patterns but have vastly different sets of copy number variations — and vice versa.
«Our preliminary data in cancers such as prostate, colon, liver and lung suggest a punctuated model of copy number evolution is also likely to be operative in other solid cancers,» said Navin.
«So, in 2003 we published [a previous] Science paper, which showed that there is [a] relatively large amount of copy number variation among normal, healthy people.»
There is another wrinkle in the Canadian data set, Scherer says: of the 427 autism sufferers assessed, 7 percent showed evidence of copy number variation.
(Chromosome 16 is the second instance of a copy number variation to be fingered as a causative mutation of the condition.
In addition, many of the copy number variations turned up in areas of the genome once considered «junk DNA.»
Examination of copy number variants, alternative splicing, epigenetics and genetic variants are needed to characterise the interactions between heritable and non-heritable mutations for an insight into the full genomic complexity of these little - understood disorders.
Exome sequencing and whole genome sequencing for the detection of copy number variation.
Her thesis was entitled «Impact of copy number variation on chromatin interactions at the mouse 4qE2 chromosome region.»
The abstract of a recent review paper expresses it well: «However, the landscape of copy number variation still remains largely unexplored, especially for smaller CNVs and those embedded within complex regions of the human genome.»
Computational correction of copy number effect improves specificity of CRISPR - Cas9 essentiality screens in cancer cells.
This is to accommodate small variants that occur at sites of copy number variation as well as in samples that are not pure: for example, due to tumor heterogeneity or sample mosaicism.
Outlier - based identification of copy number variations using targeted resequencing in a small cohort of patients with tetralogy of fallot
«We thought pressure to proliferate would lead to expansion of copy number, so there would be more DNA transcribed into RNA.
Another distinctive genetic feature of mucosal melanoma is its high rate of copy number and structural variants, demonstrated both by array - based comparative genomic hybridization and whole - genome sequencing.
The cover of copy numbers 1 - 500 feature the Performance artist, Marina Abramovic.
«There are some of these copy number changes that increase the risk of being autistic, but they may need to be inherited with other changes that culminate,» in the disorder, he says.
SNP & Variation Suite offers a complete set of tools for processing raw intensity data, identifying regions of copy number variation (CNV), visualizing copy number data, and performing association analyses on a variety of copy number covariates.