Sentences with phrase «of copy number variation»

Genome - wide association analysis of copy number variation in recurrent depressive disorder.

Despite these functional implications, the structural genomic basis of copy number variation (CNV) has only been defined in detail very recently.

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.

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.

Her thesis was entitled «Impact of copy number variation on chromatin interactions at the mouse 4qE2 chromosome region.»

Exome sequencing and whole genome sequencing for the detection 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.

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.

Outlier - based identification of copy number variations using targeted resequencing in a small cohort of patients with tetralogy of fallot

43/2: 30 Association of copy number variations with decreased cognitive phenotypes and fitness in unselected populations.

Not exact matches

I initially took interest in copy number variation because of a medical diagnosis that was terminal and genetically caused, or so it was claimed by a leading geneticist in my city.

I believe because the evidence is continuing to back the Bible and as I said earlier the number of ancient copies of the Bible is inscribe, way over a hundred, and they all match, although there are sometimes variations, they agree with one another.

Lacking money to outfit the new lab, Wang and Xin bought used equipment: a single channel DNA sequencer (bought and barely touched by a Harvard Medical School researcher); second - hand centrifuges and pipettes; a reconditioned CytoScan HD system that detects variations in the number of copies of a gene.

They made these clones by a process called automatic parthenogenesis: The egg is formed normally (with half the species» usual number of chromosomes), then fertilized by the «polar body,» a cell that is created during oogenesis and contains the same gene copies as the egg, resulting in the shark having half the genetic variation of its mother.

In a new study published in The Quarterly Review of Biology, Dr. Karen Hardy and her team bring together archaeological, anthropological, genetic, physiological and anatomical data to argue that carbohydrate consumption, particularly in the form of starch, was critical for the accelerated expansion of the human brain over the last million years, and coevolved both with copy number variation of the salivary amylase genes and controlled fire use for cooking.

Most of the DNA linked to autism involves copy - number variation, in which segments of DNA are repeated or deleted in the genomes of affected children.

The number of copies of the resistance gene varies among cultivars; a new method, developed by University of Illinois researchers, is able to efficiently quantify this variation for the first time.

«An efficient method for measuring copy number variation applied to improvement of nematode resistance» is published in The Plant Journal.

Now, researchers at the University of California, Los Angeles, have shown how to turn a regular smartphone into a portable, inexpensive microscope that accurately measures copy - number variations in seconds.

The team integrated three, complementary gene sequencing approaches to look for mutations in tumor cells from SS patients: whole - genome sequencing in six subjects, sequencing of all protein - coding regions (exomes) in 66 subjects, and comparing variation in the number of copies of all genes across the genome in 80 subjects.

By studying rare «copy number variations,» which are individual errant insertions or deletions of DNA segments (each of which occur in less than one percent of the population), researchers discovered a new cluster of genes that are affected in some autistic individuals as well as a number of mutations that were present in autistic children but not their parents.

He notes that because of the boggling number of potential factors, such as copy number variations, point mutations and epigenetic (inherited mutation) factors involved in autism, it will be important to find common pathways «because the mechanisms interrupting those pathways might be different among individuals.»

And rather than the total number of variations, she says, autism seems to be, in part, a result of «where the copy number variation hit.»

Using postmortem human brain samples, the researchers found that variations in the number of copies of the C4 gene that people had, and the length of their gene, could predict how active the gene was in the brain.

They also have an average of about 13 large DNA duplications or deletions, called copy number variations (CNVs).

American geneticist Calvin Bridges discovered copy number variation in 1936, when he noticed that flies that inherit a duplicate copy of a gene called Bar develop very small eyes.

They found that 10 per cent of these children have copy number variations (CNVs) affecting genes deemed clinically relevant.

Scherer and his colleagues, who included population geneticist Matthew Hurles of the Wellcome Trust Sanger Institute in Cambridge, England, followed up with a higher - resolution CNV study in 2006, which analyzed DNA from 270 individuals and identified an average of 47 copy number variations per person.

Two groups of researchers published the first genome - wide CNV maps, which illustrated that variation in gene quantity is actually quite common: each group found about 12 copy number imbalances per person.

The analysis suggests that about 1,000 copy number variations exist in each person, spanning at least 1 percent of the genome.

And instead of just several types of brick, it turned out that there were dozens of smaller variations within each type of brick, represented by the many slightly differing copy numbers in the gene.

This type of disorder is also known as a copy number variation (CNV).

Scientists first reported a link between a surplus of genetic material on chromosome 15 and autism in 1994, a finding that has since been replicated and confirmed to be a copy number variation.

On January 9, a team, led by researchers at Massachusetts General Hospital (MGH) and Children's Hospital Boston, announced that it had found copy number variations — deletions of duplications of segments of genetic code that alter the number of copies of a gene a person carries — in 12 of 1,400 autism sufferers it was studying.

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 general approach of looking at copy number variation as the cause for genetic disease has probably taken one of those exponential — it's probably hyper --- exponential leaps,» he says.

Citing the growing body of evidence of links between copy number variations and diseases such as autism, an international science consortium announced yesterday that it plans to sequence the genomes of 1,000 people from around the world in an attempt to flush out genetic suspects.

These included copy number variations (repeated or deleted stretches of DNA) and chromosomal abnormalities.

PHILADELPHIA, PENNSYLVANIA — There's more variety to DNA than you might think: Deletions or additions of genetic material between individuals, called copy number variations (CNVs), are a common source of genetic diversity.

Using a specific work flow, they assessed both the coding and noncoding regions of the human genome, including the evaluation of highly polymorphic SNPs, structural and copy number variations, as well as 69 control genomes sequenced by the same procedures.

Integrated detection and population - genetic analysis of SNPs and copy number variation.

It is thought to be due to a complex interplay between polygenic and various environmental risk factors, although recent reports on genomic copy number variations suggest that a fraction of the cases could result from variably penetrant de novo variants.

The study for the first time estimates the minimum number of locations in the human genome — 250 to 300 — where gene copy number variation (CNV) can give rise to autism spectrum disorder (ASD).

Investigation of the (biological, neuropsychological and psychiatric) characteristics of 22q11 copy number variations (CNV's): 22q11DS and 22q11Dup genetic syndrome.

The SPD genes, some of them known to mediate host - cell attachment, modification of host immunity and immune evasion, frequently presented copy number variations across strains or were found amplified in tandems forming gene arrays.

While sequences capture most of the clinical genomics attention, scientists have learned over the past decade that something called copy number variations (CNVs) also play a role.

These datasets include: the actual genome sequences of the 1,011 isolates; the list of 4,940 common «core» ORFs plus 2,856 ORFs that are variable within the population (together these make up the «pangenome»); copy number variation (CNV) data; phenotyping data for 36 conditions; SNPs and indels relative to the S288C genome; and much more.

As an example, skeletal malformations and dysplasias, often detected through routine prenatal ultrasound examination, constitute a phenotypic finding in more than 300 syndromic and non-syndromic disorders and their genetic etiology may be due to a wide variety of genetic aberrations, ranging from copy number variations to single gene mutations.

This study of human genetic variation and its relationship to health and disease involves a large number of study participants and will capture not only common single nucleotide variations but also rare copy number and structural variants that are increasingly thought to play an important role in complex disease.