The scientists, including SFU doctoral students Iman Hajirasouliha and Fereydoun Hormozdiari (recently graduated), sequenced and analyzed a pool of 1092 human genomes. Hormozdiari is now pursuing postdoctoral studies at the University of Washington.
The scientists sequenced the genomes of individuals from 14 different populations (five from Europe; three from Africa; three from East Asia; three from the Americas). The researchers used computational tools developed in Cenk Sahinalp’s lab to discover many variants in those genomes. Sahinalp, who is Hajirasouliha’s and Hormozdiari’s doctoral supervisor, is a professor in SFU’s School of Computing Science.
In the largest previous study, which also involved Hajirasouliha and Hormozdiari in Sahinalp’s lab, scientists sequenced the genomes of 185 people selected from an original pool of 1,000 human genomes.
Delving into a larger and more varied pool of genetic information has enabled the scientists to discover more numerous and rarer genetic variations than previously known.
Their findings have just been published in the Nature journal article An integrated map of genetic variation from 1,092 human genomes now online.
“Rare genetic variants are indeed very important because on the evolutionary scale, they occurred most recently,” explains Hajirasouliha. “Their patterns of sharing among different individuals can reveal aspects of population history. They are also very important in disease association studies, which aim often today to associate rare variants with diseases of genomic origin, such as autism and cancer.”
The researchers have yet to figure out what their latest genetic cache means in terms of population health and diseases. That could take years. They are sifting through 38 million variations in a single nucleotide of DNA and 1.4 million small insertions and deletions and more than 14 thousand larger deletions in DNA sequences.
Hajirasouliha is already looking ahead to the next big project. “I would personally like to see more individuals from more populations being sequenced, with less focus on European populations. I would also like to look for more complex variations,” says the researcher. “This kind of sequencing is extremely important for medical genetic studies in many populations. In fact, there are plans to extend genomic mapping to 1,500 more people representing 11 new populations.”Contact:
Carol Thorbes | EurekAlert!
Molecular trigger for Cerebral Cavernous Malformation identified
26.11.2015 | EMBO - excellence in life sciences
Peering into cell structures where neurodiseases emerge
26.11.2015 | University of Delaware
Planet Earth experienced a global climate shift in the late 1980s on an unprecedented scale, fuelled by anthropogenic warming and a volcanic eruption, according to new research published this week.
Scientists say that a major step change, or ‘regime shift’, in the Earth’s biophysical systems, from the upper atmosphere to the depths of the ocean and from...
The Fraunhofer Institute for Solar Energy Systems ISE has installed 70 photovoltaic modules on the outer façade of one of its lab buildings. The modules were...
Nerve cells cover their high energy demand with glucose and lactate. Scientists of the University of Zurich now provide new support for this. They show for the first time in the intact mouse brain evidence for an exchange of lactate between different brain cells. With this study they were able to confirm a 20-year old hypothesis.
In comparison to other organs, the human brain has the highest energy requirements. The supply of energy for nerve cells and the particular role of lactic acid...
In laser material processing, the simulation of processes has made great strides over the past few years. Today, the software can predict relatively well what will happen on the workpiece. Unfortunately, it is also highly complex and requires a lot of computing time. Thanks to clever simplification, experts from Fraunhofer ILT are now able to offer the first-ever simulation software that calculates processes in real time and also runs on tablet computers and smartphones. The fast software enables users to do without expensive experiments and to find optimum process parameters even more effectively.
Before now, the reliable simulation of laser processes was a job for experts. Armed with sophisticated software packages and after many hours on computer...
Researchers at Heidelberg University have devised a new way to study the phenomenon of magnetism. Using ultracold atoms at near absolute zero, they prepared a...
25.11.2015 | Event News
17.11.2015 | Event News
21.10.2015 | Event News
26.11.2015 | Ecology, The Environment and Conservation
26.11.2015 | Materials Sciences
26.11.2015 | Earth Sciences