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!
‘Farming’ bacteria to boost growth in the oceans
24.10.2016 | Max-Planck-Institut für marine Mikrobiologie
Calcium Induces Chronic Lung Infections
24.10.2016 | Universität Basel
Terahertz excitation of selected crystal vibrations leads to an effective magnetic field that drives coherent spin motion
Controlling functional properties by light is one of the grand goals in modern condensed matter physics and materials science. A new study now demonstrates how...
Researchers from the Institute for Quantum Computing (IQC) at the University of Waterloo led the development of a new extensible wiring technique capable of controlling superconducting quantum bits, representing a significant step towards to the realization of a scalable quantum computer.
"The quantum socket is a wiring method that uses three-dimensional wires based on spring-loaded pins to address individual qubits," said Jeremy Béjanin, a PhD...
In a paper in Scientific Reports, a research team at Worcester Polytechnic Institute describes a novel light-activated phenomenon that could become the basis for applications as diverse as microscopic robotic grippers and more efficient solar cells.
A research team at Worcester Polytechnic Institute (WPI) has developed a revolutionary, light-activated semiconductor nanocomposite material that can be used...
By forcefully embedding two silicon atoms in a diamond matrix, Sandia researchers have demonstrated for the first time on a single chip all the components needed to create a quantum bridge to link quantum computers together.
"People have already built small quantum computers," says Sandia researcher Ryan Camacho. "Maybe the first useful one won't be a single giant quantum computer...
COMPAMED has become the leading international marketplace for suppliers of medical manufacturing. The trade fair, which takes place every November and is co-located to MEDICA in Dusseldorf, has been steadily growing over the past years and shows that medical technology remains a rapidly growing market.
In 2016, the joint pavilion by the IVAM Microtechnology Network, the Product Market “High-tech for Medical Devices”, will be located in Hall 8a again and will...
14.10.2016 | Event News
14.10.2016 | Event News
12.10.2016 | Event News
24.10.2016 | Earth Sciences
24.10.2016 | Life Sciences
24.10.2016 | Physics and Astronomy