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BGI Newsletter Subscribe / Unsubscribe News from BGI Spotlights in Genomics Research Highlight Contact BGI Newsletter Tel: +86 755 25283805 Email: bgi-newsletter@service.genomics.cn This E-mail was sent from BGI, If you do not wish to receive such communication, please click here to unsubscribe. 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 ★ ★ ★ ★