X GEN Congress 2013 - 2013年X-GEN學會 -
2013年3月18 - 20日
美國,加利福尼亞州,聖地亞哥,Hilton San Diego Resort

讓DNA/RNA圖譜製作更為迅速化及低成本化,讓基因組比對可能實現,並加速了發現的速度。Cambridge Healthtech Institute(CHI)所召開的第4屆X-Gen Congress and Expo是網羅至今的技術性進步,並以持續進化的應用技術為焦點的獨特學會。本屆以臨床方面的有效性為焦點的學會,將闡明資訊的解析技術成為實現基因組發現的原動力,以及基因測序的策略性步驟的背景。



2:00 議長的開會致辭

2:15 定義代謝和乳癌關聯性的表觀基因動性調節分析

Kevin GardnerKevin Gardner, M.D., Ph.D., Senior Investigator and Head, Transcription Regulation Section, Center for Cancer Research, NCI, NIH, DHHS
New findings linking epigenetic regulation to cellular processes that drive important hallmarks of cancer will be discussed. The broader impact of these findings on defining molecular and genomic mechanisms that uncover important connections between race, obesity and breast cancer will be reviewed.

3:00 人類癌的身體性Retrotransposition展望

Peter ParkPeter J. Park, Ph.D., Associate Professor, Center for Biomedical Informatics, Harvard Medical School; Informatics Program, Childrenfs Hospital Boston
Transposable elements (TEs) comprise close to half of the human genome, and some TE families are still able to copy and insert their sequences into other genomic loci through an RNA-mediated mechanism. We will describe our analysis of somatic retrotransposition events in cancer and their potential role in tumorigenesis, using a computational method called Tea (Transposable Element Analyzer) we developed for detecting TE integration sites at single-nucleotide resolution from paired-end whole-genome sequencing data. We have identified nearly 200 high-confidence somatic TE insertions in the cancer genomes of 43 patients across multiple tumor types, and our integrative analyses with other data types have indicated their potential impact in tumorigenesis. We will give an update on our efforts at characterizing TE activities in a more comprehensive panel of tumor types.

3:45 下午的休息時間

4:00 遺傳基因調節與一般性疾病

John Stamatoyannopoulos, M.D. Associate Professor, Genome Sciences and Medicine, School of Medicine, University of Washington

5:00 主題演講者的專題討論會

Kevin DaviesModerator: Kevin A. Davies, Ph.D., Editor-in-Chief, Bio-IT World

Thanks to the explosive power of NGS and extraordinary collaborative projects such as ENCODE and TCGA, researchers are gaining important new insights regarding genome function and architecture, including the role of non-coding RNAs and epigenetic modifications in health and disease. In this plenary panel discussion, our opening speakers will discuss the implications of current research and future directions and priorities.


Genome in a BottleGenome in a Bottle Consortium

Thursday, March 21

7:30 am Consortium Registration

8:30 Genome in a Bottle Consortium

NIST has recently convened the Genome in a Bottle Consortium to develop the reference materials, reference methods, and reference data needed to support confidence in human whole genome variant calls. The work of this consortium will enable translation of sequencing to clinical applications through a community standards development effort.

The consortium will host a morning session to present its work plan, progress at NIST in developing whole-genome reference materials, and updates from each of four working groups: (1) Reference Material (RM) Selection and Design; (2) Measurements for Reference Material Characterization; (3) Bioinformatics, Data Integration and Data Representation; (4) Performance Metrics and Figures of Merit.

NISTAn open discussion with the working group  chairs  and consortium hosts from NIST will follow the presentations.

NGS for Drugs, Patients and Clinical Trials

March 22-23
Designed for drug developers to explore the unparalleled advantages of NGS technologies for translational research, while addressing common challenges.
Learn more at healthtech.com/ngs-drug-development 



Applying NGS and Data Analysis

Hear first-hand what thought leaders are saying about the use of NGS over the past two years, as well as their perspective on where NGS will take us in the future.



Detecting Sense-Antisense Transcripts Differentially Regulated by Androgens in Prostate Cancer Cells

Melanie LehmanMelanie Lehman, Ph.D., Research Scientist, Australian Prostate Cancer Research Centre, Queensland University of Technology

To view the poster, please click here.



2012 DVD

Technologies and Tools for Life Sciences DVD CoverSequencing 101  
In less than five years next-generation sequencing has gone from radical to routine. Naturally, in a field moving so fast, newbies can feel overwhelmed. Sequencing 101 is designed to provide definitions in terminology, types of platforms, workflow strategies, and current applications, to what's next? Learn about the genomic data revolution from data generation to management to analysis and interpretation.





gEnding Diagnostic Odysseysh: A Bio-IT World Podcast 

Guest: ELIZABETH WORTHEY PhD, Assistant Professor, Medical College of Wisconsin
Host: KEVIN DAVIES, Editor, Bio-IT World

Elizabeth WortheyA team led by Liz Worthey and Howard Jacob recently published a landmark case report in which genome sequencing of an individual patient, Nicholas Volker, produced a specific diagnosis and a meaningful therapy. Since October 2010, their team at the Medical College of Wisconsin has established a comprehensive review system to end the diagnostic odysseys of other young patients.

In this exclusive podcast, recorded at the Copenhagenomics conference in June 2011, Liz Worthey discusses with Bio-IT World editor Kevin Davies the highs and lows of the Volker case, the challenges of genome data analysis, and how that experience has provided the foundation for ongoing clinical genome sequencing efforts.

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