Sentences with phrase «study of human genetic variation»

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.

I continued working at the interface of science and epidemiology, first with Genaissance Pharmaceuticals, a New Haven - based pharmacogenomics company, where I was involved in the fascinating study of human genetic variation and population genetics.

Not exact matches

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.

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.

«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.»

«Our multi-ethnic exploration of innate and adaptive immunity highlights a remarkable level of sharing across human populations of genetic variation influencing immune function, while identifying interesting instances of genetic effects on immune function that are specific to a population,» said Nir Hacohen, PhD, MGH and the Broad Institute, study author.

Lead researcher Professor Vardhman Rakyan from QMUL said: «The fact that genetic variation of ribosomal DNA seems to play such a major role suggests that many human genetics studies could be missing a key part of the puzzle.

«It offers a new window onto past human genetic variation, and is truly an important development in the history of our science and in the study of the past.»

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?

Genetic studies in humans, zebrafish and mice have revealed how two different types of genetic variations team up to cause a rare condition called Hirschsprung's dGenetic studies in humans, zebrafish and mice have revealed how two different types of genetic variations team up to cause a rare condition called Hirschsprung's dgenetic variations team up to cause a rare condition called Hirschsprung's disease.

But new genetic studies of ancient DNA from Neandertals have found that they and the last ancestor they shared with humans, about 600,000 years ago, also lacked much genetic variation, which would require at least three dramatic bottlenecks — an improbable scenario.

The research in his laboratory involves the study of the nature and extent of human immunodeficiency virus (HIV) genetic variation, the biological and evolutionary processes that have produced the observed patterns, and the human genes and their relevant genetic variants that influence susceptibility or resistance to HIV infection.

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).

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.

«Genetic recombination is a fundamental process, at the core of reproduction and evolution,» said study author Graham Coop, PhD, post-doctoral fellow in the Department of Human Genetics at the University of Chicago, «yet we know very little about where it occurs or why there is so much variation among individuals in this important process.»

We show how the HapMap resource can guide the design and analysis of genetic association studies, shed light on structural variation and recombination, and identify loci that may have been subject to natural selection during human evolution.

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.

Diversity in Genomics Research Cohorts The lack of diversity within participant cohorts in genetics and genomics research limits our ability to study variation across the human genome and the genetic factors that influence health and disease, as well as our ability to ensure that every segment of the population is able to benefit from advances stemming from the research.

An open - source C / C + + library of analytical tools for human genetic variation data from whole - exome and whole - genome studies.

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.

Our study outlines the major sources of genetic and phenotypic variation in iPS cells and establishes their suitability as models of complex human traits and cancer.

The properties of the human Y chromosome - namely, male specificity, haploidy and escape from crossing over - make it an unusual component of the genome, and have led to its genetic variation becoming a key part of studies of human evolution, population history, genealogy, forensics and male medical genetics.

Human genetic studies have identified novel DNA variations in the genome associated with AMD, but most of them are not located within gene protein - coding regions, making their study a challenge.