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!
Ion treatments for cardiac arrhythmia — Non-invasive alternative to catheter-based surgery
20.01.2017 | GSI Helmholtzzentrum für Schwerionenforschung GmbH
Seeking structure with metagenome sequences
20.01.2017 | DOE/Joint Genome Institute
An important step towards a completely new experimental access to quantum physics has been made at University of Konstanz. The team of scientists headed by...
Yersiniae cause severe intestinal infections. Studies using Yersinia pseudotuberculosis as a model organism aim to elucidate the infection mechanisms of these...
Researchers from the University of Hamburg in Germany, in collaboration with colleagues from the University of Aarhus in Denmark, have synthesized a new superconducting material by growing a few layers of an antiferromagnetic transition-metal chalcogenide on a bismuth-based topological insulator, both being non-superconducting materials.
While superconductivity and magnetism are generally believed to be mutually exclusive, surprisingly, in this new material, superconducting correlations...
Laser-driving of semimetals allows creating novel quasiparticle states within condensed matter systems and switching between different states on ultrafast time scales
Studying properties of fundamental particles in condensed matter systems is a promising approach to quantum field theory. Quasiparticles offer the opportunity...
Among the general public, solar thermal energy is currently associated with dark blue, rectangular collectors on building roofs. Technologies are needed for aesthetically high quality architecture which offer the architect more room for manoeuvre when it comes to low- and plus-energy buildings. With the “ArKol” project, researchers at Fraunhofer ISE together with partners are currently developing two façade collectors for solar thermal energy generation, which permit a high degree of design flexibility: a strip collector for opaque façade sections and a solar thermal blind for transparent sections. The current state of the two developments will be presented at the BAU 2017 trade fair.
As part of the “ArKol – development of architecturally highly integrated façade collectors with heat pipes” project, Fraunhofer ISE together with its partners...
19.01.2017 | Event News
10.01.2017 | Event News
09.01.2017 | Event News
20.01.2017 | Awards Funding
20.01.2017 | Materials Sciences
20.01.2017 | Life Sciences