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Spotlights in Genomics
Research Highlight
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August 2012
Volume 2 Issue 8 Spotlights in Genomics / News from BGI / Research Highlight
www.genomics.cn
The Genomics Symposium to Boost the Further
Development of Cancer Research
The symposium themed "The Era of Next Generation
Sequencing in Cancer", co-organized by BGI and Imperial
College London, was successfully conducted in London, UK.
Around 70 experts, scholars, and representatives from the
local colleges, institutes and biotechnology industries
attended the meeting with the aim to exchange their
insights on high-throughput genomics and accelerate the
further development of cancer research. More
Yak Genome Provides New Insights into High
Altitude Adaptation
An international team, led by Lanzhou University, comprising
BGI, Institute of Kunming Zoology, Chinese Academy of
Sciences as well as the other 12 institutes, has completed the
genomic sequence and analyses of a female domestic yak,
which provides important insights into understanding
mammalian divergence and adaptation at high altitude. This
study was recently published online in Nature Genetics .
Scienceshot made a timely comment on yak genome themed
"What gets yak high" . More
BGI Debuts New Tool "PDXomics™" for Tumor
Xenograft Research and Applications
BGI announced that it has successfully developed a new
filtering tool, PDXomics™, which performs accurate and
specific classification of the mixed reads derived from the
host and tumor xenografts. Through the full utilization of
this robust tool, researchers could develop the specific
patient-derived xenografts (PDX) and advance the oncology
drug discovery, biomarker development and their future
applications. More
New Model in Scientific Publishing: GigaScience
Combines Article and Data Publication
BGI and their publishing partner BioMed Central, a leader in
scientific data sharing, announce the launch of a new journal,
GigaScience, which publishes large-scale biological research
in a unique format. The journal combines standard article
publishing with complete data hosting and analysis tools, all
of which are open access and freely available. More
Salt Cress Genome Yields New Clues to Salt Tolerance
An international team, led by Institute of Genetics and
Developmental Biology, Chinese Academy of Science, and
BGI, has completed the genomic sequence and analysis of
salt cress (Thellungiella salsuginea), a wild salt-tolerant
plant. The salt cress genome serves as a useful tool for
exploring mechanisms of adaptive evolution and sheds new
lights on understanding the genetic characteristics
underlying plant abiotic stress tolerance. The study was
published online in PNAS. More
Scots link-up with China to boost genetic research
Research in the growing field of genomics – which could lead
to a new generation of personalized medical treatments –
will be boosted by an initiative that brings together scientific
expertise from China and Edinburgh. A memorandum of
understanding signed between the University of Edinburgh
and BGI, the world's largest genomics organization, will aim
to build on both institutions' strengths in genomics. More
BGI Reports the Latest Finding on NMNAT1
Mutations Linked to Leber Congenital Amaurosis
A five-country international team, led by Casey Eye Institute
Molecular Diagnostic laboratory, BGI and Zhejiang
University School of Medicine First Affiliated Hospital
identified the NMNAT1 mutations as a cause of Leber
congenital amaurosis (LCA), one of the most common
causes of inherited blindness in children. The latest study
was published online in Nature Genetics, reporting the
genetic characteristics underlying some LCA patients, and
providing important evidences that support NMNAT1 as a
promising target for the gene therapy of LCA. More
BGI Partners with the University of Birmingham
The University of Birmingham and BGI have announced a
major joint initiative in environmental and human health
research. The new venture will provide a world-class
research and training centre on Birmingham's campus that
integrates state-of-the-art approaches in molecular
biology, including DNA sequencing, metabolomics and
bioinformatics. Research will focus on organism responses
to environmental change through to disease susceptibility
and treatment. More
China (Mainland)
BGI-Shenzhen, Beishan Industrial Zone, Yantian District, Shenzhen, 518083, China
Tel: 400-706-6615 +86-755-2527-3620 Email: tech@genomics.cn www.genomics.cn
Asia Pacific(Hong Kong)
BGI Hong Kong Co. Limited, 16th Dai Fu Street, Tai Po Industrial Estate, Tai Po, Hong Kong
Tel: +852-3610-3510 Email: bgihk.enquiry@genomics.org.cn www.bgisequence.com/hk
North America (Boston)
BGI Americas Corporation, One Broadway, 14th Floor, Cambridge, MA 02142, USA
Tel: +1-617-500-2741 Email: info@bgiamericas.com www.bgiamericas.com www.bgisequence.com/us
Europe (Copenhagen)
BGI Europe, Copenhagen Bio Science Park, Ole Maaløes Vej 3, 2200 Copenhagen, Denmark
Tel: (+45) 70260806 Email: bgieurope@genomics.cn www.bgisequence.com
Japan(Kobe)
BGI Japan, Kobe KIMEC Center BLDG. 8F, 1-5-2 Minatojima-minamimachi, Chuo-ku, KobeCity, Hyogo-pref. 650-0047, JAPAN
Tel: +81-78-599-6108 Email: bgijapan@genomics.cn www.bgisequence.com/jp/
Coming Up Events
Hosted by BGI
ICG-Americas 2012
September 27-28th, 2012, Philadelphia, PA
Learn More
The 7th International Conference on Genomics
& Bio-IT APAC 2012
November 28–December 1st, 2012, Hong Kong, China
Learn More
ISCB-Asia/SCCG 2012
December 17–December 19th, 2012, Shenzhen, China
Learn More
Attended by BGI
ASHG 2012
November 6-10th, 2012, San
Francisco, CA
Learn More
www.genomics.cnSubscribe / Unsubscribe
Microbe
1. Gut Immune Maturation Depends on Colonization with a Host-Specific Microbiota More
2. New Coating Evicts Biofilms for Good More
3. New Research Method Provides Better Insights into the World of Microbes More
4. Researchers Unveil Molecular Details of How Bacteria Propagate Antibiotic Resistance More
5. Deadly E. coli strain decoded More
Human Health & Medicine
1. Non-invasive Prenatal Measurement of the Fetal Genome More
2. Comprehensive Molecular Characterization of Human Colon and Rectal Cancer More
3. Cancer Epigenetics: From Mechanism to Therapy More
4. A Landscape of Driver Mutations in Melanoma More
5. The Origin and Evolution of Mutations in Acute Myeloid Leukemia More
6. Dissecting the Genomic Complexity Underlying Medulloblastoma More
7. Mechanism of Lung Cancer-associated Mutations Suggests New Therapeutic Approaches More
8. Transforming Fusions of FGFR and TACC Genes in Human Glioblastoma More
Pharma & Biotech
1. New Genomic Sequencing Method Enables 'Smarter' Anaysis of Individual Cells More
2. A Whole-Cell Computational Model Predicts Phenotype from Genotype More
3. Cancer: Of Targets and Anti-targets More
4. 3-D tumor Models Improve Drug Discovery Success Rate More
5. Two Drugs Help Fight Kidney, Breast Cancer More
6. Computational Analysis Identifies Drugs to Treat Drug-resistant Breast Cancer More
7. Trial Signals Major Milestone in Hunt for New TB Drugs More
8. Rejected Alzheimer's Drug Shows New Potential More
Plants & Animals
1. The Polar Bear’s Prehistoric Past More
2. A Transitional Snake from the Late Cretaceous Period of North America More
3. The Genome of Flax (Linum usitatissimum) Assembled De novo from Short Shotgun Sequence Reads More
4. Historical Genomics of North American Maize More
5. Determinants of Gut Microbe Diversity in Chimpanzees More
6. Sex Drives Chromosome Evolution More
7. It's a Bird, Not a Plane: York U Study finds Migrating Songbirds Depart on Time More
Scientists Discover NMNAT1 Mutations That Cause Leber congenital amaurosis
–Four Studies Published Online in the Same Issue of Nature Genetics–
Leber congenital amaurosis (LCA) is an inherited retinal degenerative disease characterized by reduced vision in
infancy. Within the first few months of life, parents usually notice a lack of visual responsiveness and unusual roving
eye movements known as nystagmus. LCA typically involves only vision problems, but can be accompanied by
disease in other organ systems in a minority of patients. LCA is a common reason children are enrolled in schools for
the blind.
A lot of studies have been done on LCA. Recently scientists discovered NMNAT1 Mutations as a cause of LCA, and
provided important evidences that support NMNAT1 as a promising target for developing new molecular diagnosis
and gene therapy. Four studies as below were published online in the same issue of Nature Genetics:
Exome sequencing identifies NMNAT1 mutations as a cause of Leber congenital amaurosis
In this study, Professor Ming Qi and colleagues report that compound heterozygous mutations in NMNAT1 cause
LCA. NMNAT1 encodes an enzyme previously implicated in protection against axonal degeneration. More
Mutations in NMNAT1 cause Leber congenital amaurosis with early-onset severe macular and optic atrophy.
In this study, Josseline Kaplan, Jean-Michel Rozet and colleagues show that biallelic mutations in NMNAT1 cause an
autosomal recessive form of LCA characterized by early-onset severe macular atrophy and optic atrophy. More
NMNAT1 mutations cause Leber congenital amaurosis.
In this study, Eric Pierce, Xiaowu Gai and colleagues identify mutations in NMNAT1 as a new cause of LCA.
NMNAT1 encodes an isoform of nicotinamide mononucleotide adenylyltransferase, which is required for
nicotinamide adenine dinucleotide (NAD+) biosynthesis. More
Mutations in NMNAT1 cause Leber congenital amaurosis and identify a new disease pathway for retinal
degeneration.
In this study, Rui Chen and colleagues identify mutations in NMNAT1 as a new cause of LCA. They further show
that all examined individuals with NMNAT1 mutations have macular colobomas, a condition marked by severe
degeneration of the central retina. More
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