Sentences with phrase «number variation»

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

In other words, repeat number variations resemble tuning knobs that create dynamic and gradual changes in the physiology of the cell.

This difference in repeat number is known as copy number variation, and is more common than previously thought.

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

As we know that mtDNA copy number can vary largely between oocytes, also from the same woman, I would not be surprised if these gene expression differences reflect normal mtDNA copy number variation at a stage, when at least in the trophectoderm, mtDNA replication starts.»

«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.»

It may include name variations, your driver's license number, Social Security number variations, your date or year of birth, your spouse's name, your employers, your telephone numbers, and information about your residence.

$ 380 with added LTE connectivity, the Huawei MediaPad M5 8 is codenamed «Schubert», and also known by a couple of SHT - xxx model number variations.

The sequence data generated from RNA in transcriptome - wide analysis could easily be used to identify transcript copy number variation between samples, splicing variants, single nucleotide change by RNA editing and discovery for all transcribed non-coding RNA transcriptome - wide.

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.

To genotype the region correctly, we used PCR to selectively amplify the NCF1 copies and conduct copy number variation tests.

While MDA has become the preferred amplification method for projects seeking single - nucleotide variations, labs looking for gene copy number variations often prefer a method called «multiple annealing and looping - based amplification cycles» (MALBAC).

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

The optical setup for the new Doppler wind LIDAR contains just one laser source, one detector and a single - channel Fabry - Perot interferometer that converts the Doppler shift into photon number variations of the backscatter signals.

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.»

If a copy number variation disrupts certain genes, it is more likely to lead to autism.

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.

In addition, many of the copy number variations turned up in areas of the genome once considered «junk DNA.»

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 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.

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.»

They show that there is a trade - off between ovariole number and egg size, that reductions in ovariole number evolve alongside shifts to specific food sources, and that ovariole number variation among species with different food sources is best explained by adaptation to specific ecological niches.

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

We assessed shared ancestry and admixture, relationships between haplotype heterozygosity and geography, and population differences in copy number variation throughout the human genome in the 1,043 individuals.

In 2010, the company launched new applications for the system to support microRNA analysis and copy number variation detection, and in 2013 launched Prosigna ®, its first in vitro diagnostic product for prognosis of early stage breast cancer.

Identification of risk genes for autism spectrum disorder through copy number variation analysis in Austrian families.

His credit report also listed several Social Security number variations that weren't his, addresses in cities that he had never been to and many other inaccuracies.

Reportedly set to cost 329 Euro on the old continent in a Wi - Fi - only configuration, and $ 380 with added LTE connectivity, the Huawei MediaPad M5 8 is codenamed «Schubert», and also known by a couple of SHT - xxx model number variations.

386/11: 15 Clinical indexing genes affected by copy number variation in neurodevelopmental disorders.

«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.

Lamingtons come in a number variations, but traditionally are made from a Victoria sponge sandwiched together with cream and raspberry jam, coated with rich dark chocolate or sweet raspberry icing, and dipped in coconut.

A scientist explains the early, exciting findings from copy number variation (CNV) studies

Then we only used samples with no copy number variation to examine the NCF1 variant.

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.

Ozcan and his colleagues demonstrated that their $ 400 setup could identify copy - number variations and, subsequently, disease risk, replacing detection methods that require hundreds of thousands of dollars of equipment.

Unfortunately, the equipment required to diagnose copy - number variations is typically bulky and expensive.

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.

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.»

Researchers will also need to start drilling deeper to study individual copy number variations and disrupted genes to understand how they might lead to autism, she notes.

By scanning the genomes of autistic and healthy children and their parents for copy - number variation, other geneticists have found that newly appeared DNA alterations pose a risk for autism.

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.