Navigation Links
BGI develops new strategy to uncover structural variations of human genomes
Date:7/25/2011

July 25, 2011 Shenzhen, China -- The study on single-nucleotide resolution structural variations (SVs) of an Asian and African genome was published online in Nature Biotechnology. This study was performed by BGI (previously known as the Beijing Genomics Institute), the largest genomics organization in the world, and demonstrates that whole genome de novo assembly could serve as a new solution for developing a more comprehensive SV map of individuals.

With the rapid development of genomics, more and more experts focus upon the studies of human genome variations by identification and annotation of SNPs in the context of structure, function, and disease. However, recent studies have shown that there are a large number of SVs that have been discovered in the human genome putatively having equal or greater functional impacts than SNPs.

Although many methods have been used to characterize SVs in previous studies, each may have some disadvantages due to technological limitations and the complexity of SVs, making it necessary to find a high accuracy detection method to identify and characterize SVs of human genomes.

"The research focusing on SVs is a real challenge," said Yingrui Li, Director of Science and Technology Department at BGI and the co-lead author of the study, "The study was confronted with many difficulties at the start, such as alignment accuracy, rearranged structure (non-linear), breakpoint recovery, and background noises."

"As a solution," he explained, 'researchers discovered a novel pipeline for detecting SVs in Whole Genome Assembly with a lower cost and faster speed." Based on large-scale genome assembly data from next-generation sequencing technologies, small and intermediate size homozygous SVs (1- 50kbp) can be detected, including insertions, deletions, inversions, and complex rearrangements with precise breakpoints and g
'/>"/>

Contact: Lei Su
BGI-Marketing@genomics.cn
86-075-525-283-805
Beijing Genomics Institute
Source:Eurekalert

Page: 1 2 3

Related biology news :

1. Iowa State researcher develops new treatment method for canine eye diseases
2. Hypertension develops early, silently, in African-American men
3. MIT develops new way to fuse cells
4. Fujitsu Develops HDD Security Technology Based on Opal SSC Standards
5. When acute hepatitis develops into chronic hepatitis
6. MIT student develops new innovations to selectively kill cancer cells
7. CSHL team develops mouse models of leukemia that predict response to chemotherapy
8. HudsonAlpha investigator develops rapid response swine flu test
9. Carnegie Mellon develops innovative method to detect genetic causes of complex diseases
10. Epigentek Develops a New Method of Measuring Global DNA Methylation
11. GSU professor develops new method to help keep fruit, vegetables and flowers fresh
Post Your Comments:
*Name:
*Comment:
*Email:
(Date:8/29/2014)... them, twist them, fold them: modern materials that are ... whether as artificial skin or electronic paper. , Making ... challenge but a new way of working with copper ... game-changer. , Previous success in the field of ... of precious gold and silver nanowires. , By ...
(Date:8/28/2014)... pleased to announce the selection of Dr. Fred Baxendale ... acknowledges those who have served ESA for at least ... the Society that has reached an extraordinary level. Candidates ... Board and then voted on by the ESA membership. ... at Entomology 2014, ESA,s Annual Meeting in Portland, Oregon ...
(Date:8/28/2014)... The zebrafish, a ... pattern of blue stripes alternating with golden stripes. Three major ... cells emerge during growth in the skin of the tiny ... the characteristic colour pattern. ,While it was known ... proper stripes, the embryonic origin of the pigment cells that ...
Breaking Biology News(10 mins):Copper shines as flexible conductor 2Fred Baxendale selected as Honorary Member of the Entomological Society of America 2How the zebrafish gets its stripes 2How the zebrafish gets its stripes 3
... studied for this month,s posting of Geology articles include ... Mississippi Fan (Gulf of Mexico); the eastern equatorial Pacific ... Morocco; the East Antarctic Ice Sheet; southern Tibet; the ... the Siberian Traps; the eastern California shear zone; Cabo ...
... fragments, researchers say they have achieved enough coherence of ... their potential for precise quantum sensors in a material ... detectors - which can be inserted into living cells ... reactions within single cells to signalling in neural networks ...
... emissions came to a sudden halt, the carbon dioxide already ... hundreds of years, according to Princeton University-led research published in ... that it might take a lot less carbon than previously ... The researchers simulated an Earth on which, after 1,800 billion ...
Cached Biology News:Offshore pockmarks, Wax Lake Delta, Cabo de Gata, the Siberian Traps: Geology covers the world 2Offshore pockmarks, Wax Lake Delta, Cabo de Gata, the Siberian Traps: Geology covers the world 3Offshore pockmarks, Wax Lake Delta, Cabo de Gata, the Siberian Traps: Geology covers the world 4Offshore pockmarks, Wax Lake Delta, Cabo de Gata, the Siberian Traps: Geology covers the world 5Offshore pockmarks, Wax Lake Delta, Cabo de Gata, the Siberian Traps: Geology covers the world 6Offshore pockmarks, Wax Lake Delta, Cabo de Gata, the Siberian Traps: Geology covers the world 7Offshore pockmarks, Wax Lake Delta, Cabo de Gata, the Siberian Traps: Geology covers the world 8Offshore pockmarks, Wax Lake Delta, Cabo de Gata, the Siberian Traps: Geology covers the world 9Offshore pockmarks, Wax Lake Delta, Cabo de Gata, the Siberian Traps: Geology covers the world 10Offshore pockmarks, Wax Lake Delta, Cabo de Gata, the Siberian Traps: Geology covers the world 11Offshore pockmarks, Wax Lake Delta, Cabo de Gata, the Siberian Traps: Geology covers the world 12Offshore pockmarks, Wax Lake Delta, Cabo de Gata, the Siberian Traps: Geology covers the world 13Offshore pockmarks, Wax Lake Delta, Cabo de Gata, the Siberian Traps: Geology covers the world 14Offshore pockmarks, Wax Lake Delta, Cabo de Gata, the Siberian Traps: Geology covers the world 15Diamond 'flaws' pave way for nanoscale MRI 2Even if emissions stop, carbon dioxide could warm Earth for centuries 2Even if emissions stop, carbon dioxide could warm Earth for centuries 3
(Date:8/28/2014)... Ind. A new research platform uses ... of tiny structures undergoing stress and heating, ... improve designs for microelectronics and batteries., This ... information about how heating and the surface ... properties. Researchers have discussed the merits of ...
(Date:8/28/2014)... , Aug. 28, 2014 /PRNewswire/ ... new market research report is ... Whole Exome Sequencing Market ... Preparation, Target Enrichment), by Services ... Synthesis), by Application (Cancer, Monogenic ...
(Date:8/28/2014)... 28, 2014  Next month, executives from clinical trial marketing ... events beginning with Patient-Centered Clinical Trials 2014 , to ... Boston , September 4-5. Patient recruitment experts Bonnie ... Fleishman will share insights on the benefits of employing ... tactics – from media to mobile apps – can be ...
(Date:8/28/2014)... (PRWEB) August 28, 2014 Sterlitech is ... polymeric membranes to its stable of products . ... molecular weight cut-offs and include membrane filters with surface ... increase in customer demand for our membrane process testing ... variety of flat sheet membranes,” explains Sterlitech President Mark ...
Breaking Biology Technology:New analytical technology reveals 'nanomechanical' surface traits 2New analytical technology reveals 'nanomechanical' surface traits 3Whole Exome Sequencing Market by Product (Systems, Kits (Library Preparation, Target Enrichment), by Services (Sequencing), by Technology (Sequencing by Synthesis), by Application (Cancer, Monogenic disorders) - Global Forecast to 2018 2Whole Exome Sequencing Market by Product (Systems, Kits (Library Preparation, Target Enrichment), by Services (Sequencing), by Technology (Sequencing by Synthesis), by Application (Cancer, Monogenic disorders) - Global Forecast to 2018 3Whole Exome Sequencing Market by Product (Systems, Kits (Library Preparation, Target Enrichment), by Services (Sequencing), by Technology (Sequencing by Synthesis), by Application (Cancer, Monogenic disorders) - Global Forecast to 2018 4Whole Exome Sequencing Market by Product (Systems, Kits (Library Preparation, Target Enrichment), by Services (Sequencing), by Technology (Sequencing by Synthesis), by Application (Cancer, Monogenic disorders) - Global Forecast to 2018 5Whole Exome Sequencing Market by Product (Systems, Kits (Library Preparation, Target Enrichment), by Services (Sequencing), by Technology (Sequencing by Synthesis), by Application (Cancer, Monogenic disorders) - Global Forecast to 2018 6Whole Exome Sequencing Market by Product (Systems, Kits (Library Preparation, Target Enrichment), by Services (Sequencing), by Technology (Sequencing by Synthesis), by Application (Cancer, Monogenic disorders) - Global Forecast to 2018 7Whole Exome Sequencing Market by Product (Systems, Kits (Library Preparation, Target Enrichment), by Services (Sequencing), by Technology (Sequencing by Synthesis), by Application (Cancer, Monogenic disorders) - Global Forecast to 2018 8Whole Exome Sequencing Market by Product (Systems, Kits (Library Preparation, Target Enrichment), by Services (Sequencing), by Technology (Sequencing by Synthesis), by Application (Cancer, Monogenic disorders) - Global Forecast to 2018 9Whole Exome Sequencing Market by Product (Systems, Kits (Library Preparation, Target Enrichment), by Services (Sequencing), by Technology (Sequencing by Synthesis), by Application (Cancer, Monogenic disorders) - Global Forecast to 2018 10Whole Exome Sequencing Market by Product (Systems, Kits (Library Preparation, Target Enrichment), by Services (Sequencing), by Technology (Sequencing by Synthesis), by Application (Cancer, Monogenic disorders) - Global Forecast to 2018 11Whole Exome Sequencing Market by Product (Systems, Kits (Library Preparation, Target Enrichment), by Services (Sequencing), by Technology (Sequencing by Synthesis), by Application (Cancer, Monogenic disorders) - Global Forecast to 2018 12Whole Exome Sequencing Market by Product (Systems, Kits (Library Preparation, Target Enrichment), by Services (Sequencing), by Technology (Sequencing by Synthesis), by Application (Cancer, Monogenic disorders) - Global Forecast to 2018 13BBK Worldwide Leads Sessions at Key September Events 2Sterlitech Corporation Enhances Its Selection of Flat Sheet Membrane Filters 2
... Calif., Feb. 25 Nile Therapeutics,Inc. (OTC Bulletin ... for cardiovascular disease, is pleased to announce the,appointment ... Vice President of,Clinical Research., "I am delighted ... has extensive,cardiovascular clinical development experience, which should be ...
... Leader Strengthens Scaffold-Engineering Capabilities ... Electrospinning Platform Technology & Team, CANTON, Mass. ... the world,s most successful regenerative medicine,company, announced today ... NanoMatrix,s platform technology develops "designer scaffolds" for the,purposes ...
... assets under management to $1.2 billion, CAMBRIDGE, Mass. ... LLC ("Clarus Ventures"), a leading life sciences venture,capital firm, ... ("Clarus II"), a $660 million fund in Limited Partner ... by Clarus Ventures,since the firm was established in 2005., ...
Cached Biology Technology:Hsiao Dee Lieu, M.D., F.A.C.C. Named VP of Clinical Research of Nile Therapeutics 2Hsiao Dee Lieu, M.D., F.A.C.C. Named VP of Clinical Research of Nile Therapeutics 3Organogenesis, Inc. Announces Acquisition of NanoMatrix, Inc. 2Organogenesis, Inc. Announces Acquisition of NanoMatrix, Inc. 3Clarus Ventures Closes $660 Million Fund 2
... The CEQ 8800 Genetic Analysis System, which ... This automated system adds a higher level ... The CEQ 8800, part of Beckman Coulters new ... coding link with the Biomek series liquid handers, ...
... cDNA Library Panels were designed for full-length ... of PCRs to identify the desired cDNA ... in a 96-well "Master Plate," where each ... Having identified the positive well(s) by gel ...
... Rapid-Screen cDNA Library Panels were designed for ... sets of PCRs to identify the desired ... performed in a 96-well "Master Plate," where ... clones. Having identified the positive well(s) by ...
... Library Panels were designed for full-length gene ... PCRs to identify the desired cDNA clone. ... a 96-well "Master Plate," where each well ... identified the positive well(s) by gel electrophoresis ...
Biology Products: