Volume 6 Supplement 6

Beyond the Genome 2012

Meeting abstracts

Beyond the Genome 2012. Go to conference site.

Boston, MA, USA27-29 September 2012

Concatenated PDF 6S6

Page 1 of 2

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Citation: BMC Proceedings 2012 6(Suppl 6):O1

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Citation: BMC Proceedings 2012 6(Suppl 6):O2

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Pathway-based analysis of mutation impact

Authors: Joshua Stuart

Citation: BMC Proceedings 2012 6(Suppl 6):O3

Content type: Oral presentation Published on: 1 October 2012
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Illuminating the genetics of complex human diseases

Authors: Michael C Schatz

Citation: BMC Proceedings 2012 6(Suppl 6):O4

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Citation: BMC Proceedings 2012 6(Suppl 6):O5

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Hypothesis-generating clinical genomics research and predictive medicine

Authors: Leslie Biesecker

Citation: BMC Proceedings 2012 6(Suppl 6):O6

Content type: Oral presentation Published on: 1 October 2012
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Whole-genome sequencing and disease-gene detection

Authors: Lynn B Jorde

Citation: BMC Proceedings 2012 6(Suppl 6):O7

Content type: Oral presentation Published on: 1 October 2012
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Sifting disease-causing signal from genomic noise

Authors: Daniel G MacArthur

Citation: BMC Proceedings 2012 6(Suppl 6):O8

Content type: Oral presentation Published on: 1 October 2012
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De novo diagnostics of patients with intellectual disability

Authors: Joris A Veltman

Citation: BMC Proceedings 2012 6(Suppl 6):O9

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Citation: BMC Proceedings 2012 6(Suppl 6):O10

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Clinical diagnostic whole genome sequencing in a paediatric population: experience from our WGS genetics clinic

Authors: Elizabeth Worthey, David Bick, David Dimmock, Mary Shimoyama, Regan Veith, George Kowalski, Bradley Taylor, Brandon Wilk, Sharon Tsaih, Jeremy Harris, Michael Tschannen, Jaime Wendt-Andrae, Ken Brodie and Howard Jacob

Citation: BMC Proceedings 2012 6(Suppl 6):O11

Content type: Oral presentation Published on: 1 October 2012
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Characterizing epistatic hotspots of human disease

Authors: Tallulah Andrews and Caleb Webber

Citation: BMC Proceedings 2012 6(Suppl 6):O12

Content type: Oral presentation Published on: 1 October 2012
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How to avoid one thousand opportunities to do harm in genomic medicine

Authors: Isaac Kohane

Citation: BMC Proceedings 2012 6(Suppl 6):O13

Content type: Oral presentation Published on: 1 October 2012
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Analyzing genomes: is there a duty to disclose?

Authors: Amy McGuire

Citation: BMC Proceedings 2012 6(Suppl 6):O14

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Citation: BMC Proceedings 2012 6(Suppl 6):O15

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Interrogating of cancer genomes: towards more profile-based therapeutics

Authors: John David Carpten

Citation: BMC Proceedings 2012 6(Suppl 6):O16

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Citation: BMC Proceedings 2012 6(Suppl 6):O17

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Citation: BMC Proceedings 2012 6(Suppl 6):O18

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Citation: BMC Proceedings 2012 6(Suppl 6):O19

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Citation: BMC Proceedings 2012 6(Suppl 6):O20

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Citation: BMC Proceedings 2012 6(Suppl 6):O21

Content type: Oral presentation Published on: 1 October 2012
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MutaScope: a high-sensitivity variant caller dedicated to high-throughput PCR amplicons sequencing

Authors: Shawn Yost, Hakan Alakus, Hiroko Matsui, Kristen Jepsen, Richard Schwab, Kelly Frazer and Olivier Harismendy

Citation: BMC Proceedings 2012 6(Suppl 6):O22

Content type: Oral presentation Published on: 1 October 2012
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Analysis of somatic retrotransposition in human cancers

Authors: Eunjung Lee, Rebecca Iskow, Lixing Yang, Omer Gokcumen, Psalm Haseley, Lovelace J Luquette III, Jens G Lohr, Christopher C Harris, Li Ding, Richard K Wilson, David A Wheeler, Richard A Gibbs, Raju Kucherlapati, Charles Lee, Peter V Kharchenko and Peter J Park

Citation: BMC Proceedings 2012 6(Suppl 6):O23

Content type: Oral presentation Published on: 1 October 2012
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Exploring the cancer methylome

Authors: Benjamin P Berman, Daniel J Weisenberger, Toshinori Hinoue, Houtan Noushmehr, Yaping Liu, Joseph F Aman, Toshinori Hinoue, Hui Shen, Simeen Malik, Swapna Mahurkar, Timothy Triche Jr, Zachary Ramjan, Charles M Nicolet, David Van Den Berg, Leslie Cope, James G Herman…

Citation: BMC Proceedings 2012 6(Suppl 6):O24

Content type: Oral presentation Published on: 1 October 2012
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The hunt for mammalian epialleles

Authors: Vardhman Rakyan

Citation: BMC Proceedings 2012 6(Suppl 6):O25

Content type: Oral presentation Published on: 1 October 2012
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Folding principles of genomes

Authors: Job Dekker

Citation: BMC Proceedings 2012 6(Suppl 6):O26

Content type: Oral presentation Published on: 1 October 2012
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Ultra-high resolution mapping of protein-genome interactions using ChIP-exo

Authors: B Franklin Pugh

Citation: BMC Proceedings 2012 6(Suppl 6):O27

Content type: Oral presentation Published on: 1 October 2012
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Epigenetic reprogramming in the epithelial-to-mesenchymal transition

Authors: Stephen Hoang, Marcin Cieślik, Sanjay Chodaparambil, Natalya Baranova, Manish Kumar, David Allison, Jake Wamsley, Lisa Gray, Marty Mayo and Stefan Bekiranov

Citation: BMC Proceedings 2012 6(Suppl 6):O28

Content type: Oral presentation Published on: 1 October 2012
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Development of a computational strategy to compare repetitive element enrichment between experimental conditions from high-throughput sequencing datasets

Authors: Steven Criscione and Nicola Neretti

Citation: BMC Proceedings 2012 6(Suppl 6):O29

Content type: Oral presentation Published on: 1 October 2012
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Towards a patient-based drug discovery

Authors: Stuart L Schreiber

Citation: BMC Proceedings 2012 6(Suppl 6):O30

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Life stage and tissue speciation of cathepsin B (AGAP004533) derives different functional properties in the G3 strain of the mosquito Anopheles gambiae

Authors: Daniel Achinko, Dan Masiga, Paul Mireji and Flaminia Catteruccia

Citation: BMC Proceedings 2012 6(Suppl 6):P1

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Citation: BMC Proceedings 2012 6(Suppl 6):P2

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Targeted next-generation sequencing of colorectal cancer identified metastatic specific genetic alterations

Authors: A Rose Brannon, Efsevia Vakiani, Sasinya Scott, Brooke Sylvester, Krishan Kania, Agnes Viale, David Solit and Michael Berger

Citation: BMC Proceedings 2012 6(Suppl 6):P3

Content type: Poster presentation Published on: 1 October 2012
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Moving beyond gene expression: identification of lung-disease-associated novel transcripts and alternative splicing by RNA sequencing

Authors: John Brothers II, Rebecca Kusko, Gang Liu, Lingqi Luo, Brenda Juan Guardela, John Tedrow, Yuriy Alekesyev, Ivana V Yang, Mick Correll, Mark Geraci, John Quackenbush, Frank Sciurba, Paola Sebastiani, Marc Lenburg, Naftali Kaminski, David A Schwartz…

Citation: BMC Proceedings 2012 6(Suppl 6):P4

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Integration of a standardized pharmacogenomic platform for clinical decision support at Boston Children's Hospital

Authors: Catherine Brownstein, Vincent A Fusaro, Sarah Savage, Catherine Clinton, Kenneth Mandl, David Margulies, Wendy Wolf and Shannon Manzi

Citation: BMC Proceedings 2012 6(Suppl 6):P5

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Characterizing the small RNA transcriptome associated with COPD and ILD using next-generation sequencing

Authors: Joshua D Campbell, Lingqi Luo, Gang Liu, Ji Xiao, Joseph Gerrein, Brenda J Guardela, John Tedrow, Yuriy O Aleksyev, Ivana V Yang, Mick Correll, Mark Geraci, John Quackenbush, Frank Sciurba, David A Schwartz, Naftali Kaminski, Marc E Lenburg…

Citation: BMC Proceedings 2012 6(Suppl 6):P6

Content type: Poster presentation Published on: 1 October 2012
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Major differences in microRNA quantification are platform and sequence dependent

Authors: Ester Feldmesser, Dena Leshkowitz, Yisrael Parmet and Shirley Horn-Saban

Citation: BMC Proceedings 2012 6(Suppl 6):P7

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The association between LRP1 and chylomicron uptake after the ingestion of a high-fat meal

Authors: AC Frazier-Wood, EK Kabagambe, MK Wojczynski, IB Borecki, HK Tiwari, CE Smith, JM Ordovas and DK Arnett

Citation: BMC Proceedings 2012 6(Suppl 6):P8

Content type: Poster presentation Published on: 1 October 2012
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Genome-wide analysis of primate and rodent protein-coding and associated non-coding nucleotide sequences

Authors: Sudhindra R Gadagkar and Luke A Rond

Citation: BMC Proceedings 2012 6(Suppl 6):P9

Content type: Poster presentation Published on: 1 October 2012
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Exome sequencing combined with semantic discovery identifies strong disease-associated candidates in a single case of relapsing remitting multiple sclerosis

Authors: Mahjoubeh Jalali Sefid Dashti, Maritha Kotze, Susan Janse van Rensburg, Alan Christoffels and Junaid Gamieldien

Citation: BMC Proceedings 2012 6(Suppl 6):P10

Content type: Poster presentation Published on: 1 October 2012
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The consequences of denoising marker-based metagenomic data

Authors: John M Gaspar and W Kelley Thomas

Citation: BMC Proceedings 2012 6(Suppl 6):P11

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Citation: BMC Proceedings 2012 6(Suppl 6):P12

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Discovering epigenetic changes in response to tungsten-alloy treatment using next-generation sequencing technologies

Authors: Ranjana Verma, Deepak Grover and Zygmunt Galdzicki

Citation: BMC Proceedings 2012 6(Suppl 6):P13

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An integrative genomics approach for mapping the emerging genetic susceptibility landscape of triple-negative breast cancer

Authors: Chindo Hicks, Antonio Pannuti, Kandis Backus and Lucio Miele

Citation: BMC Proceedings 2012 6(Suppl 6):P14

Content type: Poster presentation Published on: 1 October 2012
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Bernoulli mixture models in application to the evaluation of algorithms estimating functionality of missense mutations

Authors: Stephanie Hicks, Sharon E Plon and Marek Kimmel

Citation: BMC Proceedings 2012 6(Suppl 6):P15

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In silico drug screening and potential target identification for hepatocellular carcinoma using support vector machine

Authors: Wu-Lung R Yang, Yu-En Lee, Ming-Huang Chen, Yu-Wen Liu, Pei-Ying Lee, Kun-Mao Chao and Chi-Ying F Huang

Citation: BMC Proceedings 2012 6(Suppl 6):P16

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Mining cancer genomes in COSMIC

Authors: Mingming Jia, Simon A Forbes, David Beare, Nidhi Bindal, Prasad Gunasekaran, Kenric Leung, Chai Yin Kok, Sally Bamford, Charlotte Cole, Sari Ward, Jon Teague, Michael R Stratton, Peter Campbell and Andrew Futreal

Citation: BMC Proceedings 2012 6(Suppl 6):P17

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Deploying next-generation sequencing in a hospital setting

Authors: Lars GT Jorgensen and Katherine Siminovitch

Citation: BMC Proceedings 2012 6(Suppl 6):P18

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Investigation of rare variation in one thousand cancer genes and its association with risk of breast and prostate cancer

Authors: Daniel Klevebring, Johan Lindberg, Simon Sundling, Mårten Neiman, Julia Sandberg, Fredrik Wiklund, Per Hall, Henrik Grönberg and Kamila Czene

Citation: BMC Proceedings 2012 6(Suppl 6):P19

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Citation: BMC Proceedings 2012 6(Suppl 6):P20

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