ASHG and its members are committed to become fluent in the language of the genome,
understand human variation, and promote the public health as well as transfering new knowledge to the next generation of genetics professionals and the public in order to improve clinical practice.
Not exact matches
By considering the
variations that can occur from one person to another, we can best
understand the full range of
human behavior.
Dr Tomi Pastinen, senior author on the second study, from McGill University said: «We have created an expansive, high - resolution atlas of
variations that deepens our
understanding of the interplay between the genetic and epigenetic machinery that drives the three primary cells of the
human immune system.
Juries are willing to put people to death based upon the
variations in DNA, but they're not willing to
understand the mechanism that creates that
variation and shapes what makes
humans different from other things.
Although researchers do not yet know the biological significance of these discoveries, they say that fully cataloguing the genome may help them
understand how genetic
variations affect the risk of contracting diseases such as cancer as well as how
humans grow from a single - celled embryo into an adult.
Stanford's Snyder is pleased about the growing push to
understand human biological
variation via personal connectome and other «- ome» profiles, such as metabolomes (the total metabolites present at a given time in our bodies) and proteomes (ditto for proteins).
The discovery sheds new light on our
understanding of the genetic complexity underpinning
variations in
human pigmentation, and could advance our knowledge of conditions linked to pigmentation, such as skin, testicular, prostate and ovarian cancers.
«Thus, it is clear that further studies must investigate an increasingly complex matrix of cell types and conditions to fully
understand the role of
human genetic
variation in disease.»
Her research is at the interface between bioimaging and proteomics, and aims to define the spatiotemporal organization of the
human proteome at a subcellular level in an effort to
understand how
variations and deviations in localization contribute to cellular function as well as disease.
«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.
The start - up's mission is to
understand the nature of
human genetic
variation and its impact on
human disease (medical genomics) and treatment (pharmacogenomics).
Several lines of evidence suggest that a person's facial shape is controlled by one's genes, but scientists don't yet
understand how genetic
variation contributes to the range of healthy shapes and sizes that
human faces take.
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.
Entire swaths of
human genetic
variation, however, remain to be
understood and we should push toward the routine de novo assembly of genomes as opposed to simply aligning to a reference for variant discovery.
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.
Professor Segal's research has two major directions 1) Gene regulation — using quantitative and computational models to
understand how DNA sequence
variation among
human individuals generates phenotypic diversity 2) Microbiome and Nutrition —
understanding how the microbial composition of individuals affect their physiology and health.
Monitoring,
understanding, and predicting oceanic
variations associated with natural climate variability and
human - induced changes, and assessing the related roles of the ocean on multiple spatial - temporal scales.
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.
Identifying disease «hot spots» by studying
variation across populations could help scientists better
understand how genetics influence
human health.
The next phase in our scientific
understanding of
human health and disease is to decipher the molecular basis of cell and tissue circuits and the impact of genetic
variations on these circuits.
«Since the
human genome was finished, one of the big efforts has been to try to
understand and catalogue
human variation.»
The Center for Research on Genomics and Global Health (CRGGH) aims to facilitate a global
understanding of the relationship between
human genetic
variation and population differences in disease distribution, with the ultimate goal of informing health inequalities.
Exploration of these findings in the context of
human disease genetics provides insights into the role of inherited
variation in blood metabolic diversity and identify potential new opportunities for drug development and for
understanding disease.
In this study we have integrated genome and transcriptome sequencing data to
understand the landscape of functional
variation in
human populations.
It's this diversity of looks that make man's best friend the perfect laboratory for connecting sets of genes to particular traits and
understanding the molecular mechanisms that govern
variation in dogs as well as
humans and other mammals.
He's interested in
understanding how non-coding genetic
variation contributes to
human traits by integrating the genome and transcriptome.
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.
Dr. Vijayanand also oversees a large - scale effort to map epigenomic modifications in more than a dozen different types of
human immune cells from normal individuals to
understand how epigenetic
variations cause susceptibility to disease.
In 2003, two large - scale consortia undertook ambitious efforts to
understand the
variation and function in the
human genome.
South Asian genetic landscape, bearing in mind its geographic, linguistic, socio - cultural and skin color diversity, offers an excellent model system to decipher the genetic underpinnings of
human skin color
variation and for a better
understanding of it's evolutionary history.
His research focuses on
understanding the role of genetic
variation in contributing to
human health and disease using mouse models of
human disease, and more recently exploiting technologies developed for biomedical research for application in the field of genetic pest management.
Vijay also oversees a large - scale effort to map epigenomic modifications in more than a dozen different types of
human immune cells from normal individuals to
understand how epigenetic
variations cause susceptibility to disease.
Massively parallel sequencing (next - generation sequencing) has revolutionized research in cancer genetics and genomics [1] and enhanced our
understanding of natural
human genetic
variation [2], [3].
Our research group is interested in the genetic basis of mammalian
variation and its evolution, with an eye towards better
understanding the
human condition.
He stressed, though, that the latest study was only a first step and that future work on other living primates were necessary to better
understand the range of
variation within modern
humans.
«GTEx will begin to provide researchers with a comprehensive view of genetic
variation and a more precise
understanding of how it affects genes critical to the normal function of tissues and organs,» said NIH Director Francis S. Collins, M.D., Ph.D. «This resource will add a new dimension to our
understanding of
human biology and the mechanisms that lead to disease.»
Race: A Teacher's Guide A substantive teaching tool to help middle and high school educators
understand and address race and
human variation, from the Race Project.
Whether studying behavioral, cognitive, or social - emotional development in children or the design of learning technologies to maximize
understanding, you will gain a strong background in
human development, the science of learning, and sociocultural factors that explain
variation in learning and developmental pathways.
The course includes core concepts in relative management, such as,
understanding the
variation between universalistic and particularistic theories, evaluate then use and usefulness of theory, assessing the explanatory role of culture, relative approach to management and administration, theories of relative management and administration,
human resources management practice
The lines of evidence and analysis supporting the mainstream position on climate change are diverse and robust — embracing a huge body of direct measurements by a variety of methods in a wealth of locations on the Earth's surface and from space, solid
understanding of the basic physics governing how energy flow in the atmosphere interacts with greenhouse gases, insights derived from the reconstruction of causes and consequences of millions of years of natural climatic
variations, and the results of computer models that are increasingly capable of reproducing the main features of Earth's climate with and without
human influences.
The new atlas could also improve
understanding of climate phenomena like the Atlantic Multi-decadal Oscillation, a
variation in North Atlantic sea - surface temperatures that hasn't been tracked long enough to tell if it is a transitory event, forced by
human intervention in the climate system, or a natural long - term oscillation.
The way I
understand Murry's brief presentation is that he has found that natural
variations in the carbon cycle are so large that the
human contribution is pretty much irrelevant.
If we do not
understand the time scale, even if it differs from place to place, we can not distinguish between the natural
variations in weather and a climate change in which we want to identify the
human component.
These shorter - term
variations are mostly due to natural causes, and do not contradict our fundamental
understanding that the long - term warming trend is primarily due to
human - induced changes in the atmospheric levels of CO2 and other greenhouse gases.
Increased
understanding about how environmental
variations, such as socio - economic disparities, affect
human brain development and behavior has significant implications for advancing basic scientific questions such as
understanding genetic versus environmental contributions of brain and behavioral development.
Implications of the current findings for
understanding culture — gene coevolution of
human brain and behaviour as well as how this coevolutionary process may contribute to global
variation in pathogen prevalence and epidemiology of affective disorders, such as anxiety and depression, are discussed.
Although evolution has shaped
human infant crying and the corresponding response from caregivers, there is marked
variation in paternal involvement and caretaking behavior, highlighting the importance of
understanding the neurobiology supporting optimal paternal responses to cries.
One contribution of 14 to a theme issue «
Understanding variation in
human fertility: what can we learn from evolutionary demography?»