Sentences with phrase «variation in human genomes»

We're looking for a postdoc to work on computational analysis of disease - associated and other functional variation in human genomes!

Results: The study revealed three novel variations in the human genome that increase risk of Fuchs dystrophy.

This is also the first study to attempt to correlate performance on this test with variation in the human genome.

This approach has successfully pinpointed millions of small variations in the human genome.

Professor Dermitzakis» research focuses on the genetic basis of regulatory variation and gene expression variation in the human genome, the processes that govern non-coding DNA evolution.

Simultaneous inference of selection and population growth from patterns of variation in the human genome.

The paper itself is very statistical in nature, with various «selection models» applied to determine the demographic and selective effects on amino acid variation in the human genome.

If this is true, then there are important implications for genetic association studies, which often rely on surveys of common genetic variation in the human genome.

Here we report a public database of common variation in the human genome: more than one million single nucleotide polymorphisms (SNPs) for which accurate and complete genotypes have been obtained in 269 DNA samples from four populations, including ten 500 - kilobase regions in which essentially all information about common DNA variation has been extracted.

Reykjavik, ICELAND, December 8, 2008 — deCODE genetics (Nasdaq: DCGN) today announced the discovery by an international consortium of scientists from deCODE and major European and US academic institutions of a single letter variation in the human genome (SNP) that is associated with increased fasting glucose levels and risk of type 2 diabetes (T2D).

Taken together, these studies both highlight a fact that I find myself repeating many times: a significant fraction of functional variation in the human genome lies outside the exons of known protein - coding genes.

Reykjavik, ICELAND, December 8, 2008 — deCODE genetics (Nasdaq: DCGN) today announced the discovery by an international consortium of scientists from deCODE and major European and US academic institutions of a single letter variation in the human genome (SNP) that is...

Scientists at deCODE genetics and colleagues in Iceland and Holland today report the discovery of variations in the human genome that influence pigmentation of hair, eyes and skin.

New risk variants published today will also be folded into deCODEme ™ Reykjavik, ICELAND, February 10, 2008 - deCODE genetics (Nasdaq: DCGN) today announced the launch of deCODE PrCa ™, a reference laboratory test for common, single - letter variations in the human genome...

His research group provided the first genome - wide view of segmental duplications within human and other primate genomes and he is a leader in an effort to identify and sequence normal and disease - causing structural variation in the human genome.

Dr. Talkowski has performed seminal studies to introduce high - resolution genomics techniques to delineate the types of genetic variation that were classically defined using cytogenetic methods, which has discovered new classes of complex genomic variation in the human genome that are remarkably common yet otherwise cryptic to conventional technologies.

Examples include the study of allelic variation in the human genome and the development of computational methods for the discovery of cancer - associated genes and diagnostic cancer markers using genomic profiles derived from different tumor types.

His research interests focus on the structural variations in the human genomes, medical genetics and genomics, pathogenesis of human diseases, molecular diagnosis and precision medicine.

Reykjavik, ICELAND, January 19, 2009 — Scientists at deCODE genetics (Nasdaq: DCGN) and colleagues from the US and ten European countries today announced a long - awaited first in cancer research: the discovery of common single - letter variations in the human genome (SNPs) linked to susceptibility not of one, but several different types of cancer, including those of lung, bladder, prostate, skin and cervix.

Smith, N.G., Webster, M.T. & Ellegren, H. Deterministic mutation rate variation in the human genome.

Not exact matches

Given Britain's involvement in an international research consortium formed to create the most detailed and medically useful picture of human genetic variation to date, tonight's other discussion points include the scientific value of the information and the regulatory implications of providing public access to personal genome data through academic research projects, as well as through commercial organisations.

The 1000 Genomes Project, a private - public consortium established in 2008, aims to create a detailed map of human genetic variation.

When Pääbo's team looked at patterns of nuclear genome variation in present - day humans, it identified 12 genome regions where non-Africans exhibited variants that were not seen in Africans and that were thus candidates for being derived from the Neandertals, who lived not in Africa but Eurasia.

Professor Dominic Kwiatkowski, one of the lead authors of the paper, from the Wellcome Trust Sanger Institute and the Wellcome Trust Centre for Human Genetics, said: «We can now say, unequivocally, that genetic variations in this region of the human genome provide strong protection against severe malaria in real - world settings, making a difference to whether a child lives or Human Genetics, said: «We can now say, unequivocally, that genetic variations in this region of the human genome provide strong protection against severe malaria in real - world settings, making a difference to whether a child lives or human genome provide strong protection against severe malaria in real - world settings, making a difference to whether a child lives or dies.

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.

Published September 15 in Genome Biology, the study relied on new software for researchers that identifies connections between seemingly unrelated human diseases and traits through the tiny, risk - conferring genetic variations they have in common.

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.

Location, location, location Human variation depends on a collection of random mutations across the genome, contributing to differences in appearance as well as behavior.

They have made possible wholesale scans that turn up new gene modifications and variations, and the same should prove true for the new human gene arrays, says Joseph Ecker, a plant scientist at the Salk Institute for Biological Studies in La Jolla, California, who has helped pioneer whole - genome chips for Arabidopsis.

«NGS technologies have vastly improved our understanding of the human genome and its variation in diseases such as cancer,» said Ken Chen, Ph.D., assistant professor of Bioinformatics and Computational Biology and co-author of the Nature Methods article.

Since scientists first decoded a draft of the human genome more than 15 years ago, many questions have lingered, two of which have been addressed in a major new study co-led by a Princeton University computer scientist: Is it possible, despite the complexity of billions of bits of genetic information and their variations between people, to develop a mechanistic model for how healthy bodies function?

To reduce false positives when identifying genetic variations associated with human disease through genome - wide association studies (GWAS), Dartmouth researchers have identified nine traits that are not dependent on P values to predict single nucleotide polymorphisms (SNP) reproducibility as reported in Human Genetics on October 2, human disease through genome - wide association studies (GWAS), Dartmouth researchers have identified nine traits that are not dependent on P values to predict single nucleotide polymorphisms (SNP) reproducibility as reported in Human Genetics on October 2, Human Genetics on October 2, 2014.

The 1000 Genomes Project, established in 2008, is an international research effort to establish the most detailed catalog of human genetic variation.

SNPs are variations in only one DNA base that can serve as physical landmarks along the 3 billion base pairs of the human genome.

Through his role in the UM Center for Genome Technology, part of the Miller School of Medicine, Dr. Hedges is actively involved in the incorporation of novel genomic technologies into the process of searching for the genetic variation underlying human disease risk.

India has been underrepresented in genome - wide surveys of human variation.

Researchers are exploring the use of new technologies for uncovering genetic variations in humans and for closing gaps in the mapping of the human genome.

The team selected possible leads from the intersection of more than 20,000 p53 binding sites in the human genome, 10 million inherited genetic variations genotyped in the 1000 Genomes Project, and 62,000 genetic variations associated with human cancers identified in genome - wide association studies (GWAS).

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).

In 2009, he established the Center for Human Disease Modeling at Duke University, which aims to facilitate collaboration across disciplines and to develop physiologically relevant, scalable tools to study variation among human patient genHuman Disease Modeling at Duke University, which aims to facilitate collaboration across disciplines and to develop physiologically relevant, scalable tools to study variation among human patient genhuman patient genomes.

Djimdé leads a research group at the University of Science, Techniques and Technologies of Bamako that is working to understand how genome variation in the Plasmodium falciparum parasite, its human host, and the Anopeheles gambaie mosquito vector contribute to the mechanisms of malaria disease spread.

Citation: Buckley RM, Kortschak RD, Adelson DL (2018) Divergent genome evolution caused by regional variation in DNA gain and loss between human and mouse.

The deCODE BreastCancer ™ test measures seven widely replicated single - letter variations (SNPs) in the human genome that deCODE and others have linked to risk of breast cancer.

I was working in a community of people who were all thinking about looking at genetic variations, of how you might look at them and how you might understand them, and so reading lots of papers from other folks who were doing great work in that area I just looked at ways that you could basically go across the human genome and look at every variation, everything that's variable between human populations.

The Kwiatkowski group investigates Plasmodium, Anopheles and human genome variation in large clinical and epidemiological studies carried out with partners in over 20 malaria - endemic countries.

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

Projects within the Swedish Genomes Program will aim at identifying the genetic causes of human diseases of high health relevance and at the establishment of a reference database of genetic variation in the Swedish population.

Abstract title: «The biological and clinical impact of mitochondrial genome variation in human embryos» by E Fragouli et al. presented at the 2015 American Society for Reproductive Medicine conference.

The challenge for the years to come is to convert data on new genes, gene defects and human genome variation in patients with genetic cardiovascular disease into functionally relevant information on the diverse pathophysiological mechanisms and clinical manifestations.

These projects explore the consequences of genome variation on human cell biology, and thus gene function in health and disease.