Sentences with phrase «genome sequence variation»

Relationships between EBV genome sequence variation and health, disease, geography and ethnicity of the host may thus be important for understanding the role of EBV in diseases and for development of an effective EBV vaccine.

Not exact matches

By increasing the speed and accuracy for NGS data analysis like whole genome sequencing (WGS), our computing platform makes it easier to discover links between DNA sequence variations and human disease.»

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.

They also compared the human genomes with recently sequenced genomes of Neanderthals and Denisovans and found similar genetic variation, which indicates that the facial variation in modern humans must have originated prior to the split between these different lineages.

With the completion of the first phase of the Human Genome Project in 2000, and the advent of sequencing technologies that can detect gene variations such as single nucleotide polymorphisms (SNPs), for the first time scientists have the tools in hand to find the key immune genes and genetic networks that play roles in vaccine response.

Equipped with faster, cheaper technologies for sequencing DNA and assessing variation in genomes on scales ranging from one to millions of bases, researchers are finding out how truly different we are from one another.

Using high - throughput sequencing of whole genomes will also be key in finding other kinds of genetic variation involved in autism, Grice explained.

Robert Cook - Deegan, director of the Institute for Genome Sciences and Policy at Duke University, does credit Myriad with discovering specific mutation sequences and building a public database of genetic variations — both valuable contributions.

Genomics studies like those commonly conducted with HeLa cells play an instrumental role in revealing how variation in genome sequence and function can lead to disease.

UCSF [University of California, San Francisco]'s Institute for Human Genetics is participating, too, looking at genome - sequence variations.

Now back to those swallowtails: Grishin said their primary goal was really to devise a way to sequence genomes with high levels of genetic variation at a reasonable cost, but they were in for some surprises.

SNPs are the most common and abundant DNA sequence variations in genomes.

With the complete sequence of the maize genome now available, positional cloning can be used to identify genes responsible for traits caused by mutations as well as by natural genetic variation.

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.

The newest study from the Autism Speaks MSSNG project — the world's largest autism genome sequencing program — identified an additional 18 gene variations that appear to increase the risk of autism.

The work on gorilla and other human genomes clearly demonstrates that large swathes of genetic variation can't be understood with the short sequence - read approaches.

Then they checked blood samples against half a million known variations in DNA sequences, or single - nucleotide polymorphisms, which recently were identified by the International HapMap Project that looked for differences in the genomes of people from many populations.

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.

«It's the packing density that could change and limit the accessibility of chromatin, providing a local and global structural basis through which different combinations of DNA sequences, nucleosome variations and modifications could be integrated in the nucleus to exquisitely fine - tune the functional activity and accessibility of our genomes.»

The methylation of DNA is one of the epigenetic mechanisms regulating the functioning of the genome, influenced by not only by variations in DNA sequence, but also environmental factors such as fluctuations in the circadian rhythm.

Through whole - genome sequencing of individual egg cells, the new method detects chromosomal abnormalities and DNA sequence variations associated with genetic disorders.

The genomes of all 15 of these finch species have been sequenced, pinpointing a gene responsible for the famous beak variations

Applications of next - generation sequencing, combined with powerful yeast genetics, now create tremendous opportunities to investigate both global contributions and specific roles of ncRNAs in genome regulation and phenotypic variation.

As the cost of sequencing genomes falls, our understanding of how variations in the genome affect our health is growing.

DNA sequence data needs to be standardised and integrated, so that results of different studies can be combined to construct an accurate picture of genome variation in pathogen populations around the world.

The authors of this scientific report explain further that comparing aligned sequences relative to their respective genomes using BowTie version 0.12.7 served two purposes: (i) To obtain unaligned reads for further analysis; and (ii) to observe variation in the numbers of both aligned and unaligned reads across different runs, experiments and organisms.

By analyzing these two exomes together with the genome sequence of a Neandertal from Siberia we show that the genetic diversity of Neandertals was lower than that of present - day humans and that the pattern of coding variation suggests that Neandertal populations were small and isolated from one another.

We expanded on our genome sequencing efforts to include efforts in whole genome gene expression analysis and functional analysis of genome variation.

Exome sequencing and whole genome sequencing for the detection of copy number variation.

The researchers, including Cleveland - based David Serre and Peter Zimmerman, Didier Menard (Institut Pasteur - Cambodia) and Arsene Ratsimbasoa (Madagascar National Malaria Control Program) are the first to sequence the genome of the parasite Plasmodium vivax, taken from patients at coverage needed to verify genome - wide DNA sequence variation.

Montgomery, S.B., Lappalainen, T., Gutierrez - Arcelus, M. & Dermitzakis, E.T. Rare and common regulatory variation in population - scale sequenced human genomes.

deCODE has identified key variations in the sequence of the genome conferring increased risk of major public health challenges from cardiovascular disease to cancer, and employs its gene discovery engine to develop DNA - based tests to assess individual risk of common diseases; to license its tests and intellectual property to partners; and to provide comprehensive, leading - edge contract services to companies and research institutions around the globe.

The Ag1000G project is using whole genome deep sequencing to provide a high - resolution view of genetic variation in natural populations of A. gambiae.

Omics techniques employed in our group range from whole genome sequencing and epigenomic techniques, to single cell / single strand DNA sequencing (Strand - seq; see Figure 1), the latter of which enables haplotype - resolved studies of genetic variation and genome instability.

One advantage of exome sequencing over genome sequencing is that it uncovers genetic variation which we are relatively well - equipped to interpret.

Large - scale genome sequencing coupled with RNA - seq, however, would provide the opportunity to comprehensively identify and characterize regulatory variation.

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.

She has pioneered the intergration of large - scale genome and transcriptome sequencing data to understand how genetic variation affects gene expression, providing insight to cellular mechanisms underlying genetic risk for disease.

In a paper published in Nature in September 2013, we describe results of the largest study to date integrating RNA and genome sequencing data from multiple human populations, and provide a comprehensive map of how genetic variation affects the transcriptome.

This method presents a simple high - throughput means to obtain full haplotypic sequences potentially up to 20 kb in length and is suitable for surveying genetic variation even in poorly - characterized genomes as it requires no prior information on sequence variation.

The quality and scale of deCODE's in - house, CLIA - registered genotyping laboratory underpins deCODE's global leadership in the discovery of variations in the sequence of the human genome conferring risk of common diseases.

Furthermore, recombination between duplicated sequences introduces structural variation into the human genome and facilitates the formation of clustered gene families.

In this study we have integrated genome and transcriptome sequencing data to understand the landscape of functional variation in human populations.

From 2008 - 2010, he was supported by the CGGH to study phenotypic variation in the drug sensitivity of Plasmodium falciparum isolates collected Kilifi District, and to investigate genotype - phenotype associations using genome sequencing data generated on these isolates at the Wellcome Trust Sanger Institute.

For the Standard Sequencing Service, all of these variation types are identified in comparison to the human genome reference.

As our understanding of the noncoding portion of the genome improves, it will become even more apparent that whole - genome sequencing (and not exome sequencing) will be required to characterize the full extent of phenotypically - relevant genetic variation in humans.

Studying a specific type of genetic variation in the DNA sequences of wolves and domestic dogs - called Single Nucleotide Polymorphisms (SNPs)- the scientists identified the transfer of dog gene variants into wolf genomes.

Reykjavik, ICELAND, May 17, 2009 — In a paper published today in the online edition of Nature Genetics, scientists from deCODE genetics (Nasdaq: DCGN) and academic colleagues from Iceland, Denmark and the Netherlands present the discovery of single letter variations in the sequence of the human genome (SNPs) that influence the age of girls at menarche, the first menstrual period.

Most of that is by design: the 1,000 Genomes Project generated and made available sequence data for more than 1,000 individuals in an effort to further characterize human genetic variation.

The role of heredity in obesity appears to be between 40 and 70 percent, and next - generation sequencing studies of whole genomes (GWAS) have uncovered about 100 common genetic variants that explain a small amount of variation leading to obesity.