Latest Human genetic variation Stories

International collaboration maps height 'hotspots' in the genome BOSTON, Sept. 29 /PRNewswire-USNewswire/ -- An international collaboration of more than 200 institutions, led by researchers at Children's Hospital Boston, the Broad Institute, and a half-dozen other institutions in Europe and North America, has identified hundreds of genetic variants that together account for about 10 percent of the inherited variation of height among people. Known as the GIANT (Genetic Investigation of...

HapMap 3 points the way forward for human genetics studiesNew findings show the value of genetic studies across human populations and the value of the latest DNA sequencing technologies to interrogate genetic variation. The results, from the latest phase of the international HapMap Project, are reported in Nature.The researchers' extensive study of genetic variation in multiple populations will form a framework for future genetic studies of variation and disease: their findings highlight the...

Finding shows feasibility of carrying out genome-wide association studies in AfricaScientists have identified a genetic variant which increases susceptibility to tuberculosis (TB) in African populations using a technique known as a genome-wide association (GWA) study. This is the first novel disease variant to be identified using this technique in Africans and demonstrates that such studies are viable in African populations, which have a high degree of genetic diversity.Over the past few...

The completion of three pilot projects designed to determine how best to build an extremely detailed map of human genetic variation begins a new chapter in the international project called 1,000 Genomes, said the director of the Baylor College of Medicine Human Genome Sequencing Center, which is a major contributor to the effort."Mapping all the shared normal variation in human populations is a critical step to interpreting medically actionable genetic changes," said Dr. Richard...

A tool for clinicians as well as geneaologistsUnderstanding the genetic ancestry of mixed populations, such as those found in North America, can not only help to detect their origins but also to understand the genetic basis of complex diseases, a scientist will tell the annual conference of the European Society of Human Genetics today (Saturday June 11). It is the first time that the genomes of individuals of admixed ancestry have been sequenced in such detail, says Dr. Francisco De La Vega...

Genetic abnormalities are most often discussed in terms of differences so miniscule they are actually called "snips" "” changes in a single unit along the 3 billion that make up the entire string of human DNA."There's a whole world beyond SNPs "” single nucleotide polymorphisms "” and we've stepped into that world," says Brian Teague, a doctoral student in genetics at the University of Wisconsin-Madison. "There are much bigger changes in there."Variation on...

Genetic researchers from the University of Pennsylvania have combined data from existing archaeological and linguistic studies of Africa with human genetic data to shed light on the demographic history of the continent from which all human activity emerged.The study reveals not just a clearer picture of the continent's history but also the importance of having independent lines of evidence in the interpretation of genetic and genomic data in the reconstruction of population histories.The...

ASHG publishes follow-up white paper report that explains scientific reasoning and expands on recommendations made in 2008 policy statementGenetic ancestry testing is a practice that has become increasingly popular in the U.S. over the past few years. An estimated half-million Americans will purchase genetic ancestry tests from one of the approximately 40 companies worldwide that currently provide this type of service to consumers. However, increasing public interest in Direct-to-Consumer...

Landmark study is first to look at genome of all family membersResearchers at the University of Utah and other institutions have sequenced for the first time the entire genome of a family, enabling them to accurately estimate the average rate at which parents pass genetic mutations to their offspring and also identify precise locations where parental chromosomes exchange information that creates new combinations of genetic traits in their children.Led by scientists at the Seattle-based...

Viruses have played a role in shaping human genetic variability, according to a study published February 19 in the open-access journal PLoS Genetics. The researchers, from the Don C. Gnocchi and Eugenio Medea Scientific Institutes, the University of Milan and the Politecnico di Milano, Italy, used population genetics approaches to identify gene variants that augment susceptibility to viral infections or protect from such infections.Viruses have represented a threat to human populations...