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Genome Biology publishes selected collections of research articles, conference proceedings, reviews and reports as supplements, which are free to access online. All articles published in supplements are subject to peer review; meeting abstracts undergo review and selection by the conference. Find out more about publishing a supplement with BioMed Central.

Volume 11 Supplement 1

Beyond the Genome: The true gene count, human evolution and disease genomics

Meeting abstracts

Beyond the Genome: The true gene count, human evolution and disease genomics

Boston, MA, USA

11-13 October 2010

Additional Information

Invited speaker presentation   Free

Between a chicken and a grape: estimating the number of human genes

Mihaela Pertea, Steven L Salzberg Genome Biology 2010, 11(Suppl 1):I1 (11 October 2010)

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Reading and writing genomes

George Church Genome Biology 2010, 11(Suppl 1):I2 (11 October 2010)

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Next-generation cancer genomics

Elaine R Mardis, The Washington University Cancer Genome Initiative project team Genome Biology 2010, 11(Suppl 1):I3 (11 October 2010)

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Gene discovery for complex diseases using exomic sequencing: identifying pancreatic cancer susceptibility genes

Alison P Klein Genome Biology 2010, 11(Suppl 1):I4 (11 October 2010)

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Personalized oncogenomics

Steven JM Jones, Janessa Laskin, Yvonne Y Li, Obi L Griffith, Jianghong An, Mikhail Bilenky, Yaron S Butterfield, Eric Chuah, Richard Corbett, Anthony Fejes, Simon Chan, Nancy Liao, Katayoon Kasaian, Malachi Griffith, John Yee, Montgomery Martin, Michael Mayo, Nataliya Melnyk, Ryan D Morin, Trevor J Pugh, Tesa Severson, Sohrab P Shah, Margaret Sutcliffe, Angela Tam, Jefferson Terry, Nina Thiessen, Thomas Thomson, Richard Varhol, Thomas Zeng, Yongjun Zhao, Richard A Moore, David G Huntsman, Inanc Birol, Martin Hirst, Robert A Holt, Marco A Marra et al. Genome Biology 2010, 11(Suppl 1):I5 (11 October 2010)

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Abstract not submitted for online publication

Craig Thompson Genome Biology 2010, 11(Suppl 1):I6 (11 October 2010)

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Large-scale identification of tissue-specific enhancers in vivo

Len A Pennacchio Genome Biology 2010, 11(Suppl 1):I7 (11 October 2010)

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Deciphering the genetic basis of common diseases by integrated functional annotation of common and rare variants

Olivier Harismendy, Gaurav Bhatia, Nazli G Rahim, Vikas Bansal, Masakazu Nakano, Michael Scott, Xiaoyun Wang, Colette Dib, Edouard Turlotte, Nathaniel Heintzman, Sarah S Murray, Jean-Francois Deleuze, Jack C Sipe, Bing Ren, Vineet Bafna, Eric J Topol, Kelly A Frazer Genome Biology 2010, 11(Suppl 1):I8 (11 October 2010)

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Abstract not submitted for online publication

Michele Clamp Genome Biology 2010, 11(Suppl 1):I9 (11 October 2010)

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Most of the 6.5% - 10% of human DNA bases that are functional now will soon be turned over

Chris P Ponting, Stephen J Meader, Gerton Lunter Genome Biology 2010, 11(Suppl 1):I10 (11 October 2010)

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The developmental transcriptome of Drosophila melanogaster

Brenton Graveley Genome Biology 2010, 11(Suppl 1):I11 (11 October 2010)

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Transcriptomics in a high throughput world

Chad Nusbaum Genome Biology 2010, 11(Suppl 1):I12 (11 October 2010)

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Synthetic and sequencing-based approaches to high-throughput genetic analysis

Jay Shendue Genome Biology 2010, 11(Suppl 1):I13 (11 October 2010)

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Helicos single molecule sequencing: unique capabilities and importance for molecular diagnostics

Patrice M Milos Genome Biology 2010, 11(Suppl 1):I14 (11 October 2010)

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Translational medicine and the human microbiome

Rob Knight Genome Biology 2010, 11(Suppl 1):I15 (11 October 2010)

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Abstract not submitted for online publication

Stephan Schuster Genome Biology 2010, 11(Suppl 1):I16 (11 October 2010)

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Exploring the human gut microbiome

Jun Wang Genome Biology 2010, 11(Suppl 1):I17 (11 October 2010)

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Skin microbiome in health and disease

Julie A Segre, Elizabeth A Grice, Heidi H Kong, Sean Conlan, Evan Snitkin, Lilia Mijares, Patrick Murray, Eric D Green, Maria L Turner Genome Biology 2010, 11(Suppl 1):I18 (11 October 2010)

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The rare biosphere: sorting out fact from fiction

Mitchell L Sogin, Hilary Morrison, Sandra McLellan, David Welch, Sue Huse Genome Biology 2010, 11(Suppl 1):I19 (11 October 2010)

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Genomic variation and adaptation in Africa: implications for human evolutionary history and disease

Sarah A Tishkoff, Michael Campbell, Jibril Hirbo, Joe Jarvis, Wen-Ya Ko, Charla Lambert, Alessia Ranciaro, Laura Scheinfeldt, Sameer Soi Genome Biology 2010, 11(Suppl 1):I20 (11 October 2010)

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Reconstructing sex chromosome evolution

David C Page, Jennifer F Hughes, Daniel W Bellott, Jacob L Mueller, Mark E Gill, Amanda Larracuente, Tina Graves, Donna Muzny, Wesley C Warren, Richard A Gibbs, Richard K Wilson, Helen Skaletsky Genome Biology 2010, 11(Suppl 1):I21 (11 October 2010)

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Mining data from 1000 genomes to identify the causal variant in regions under positive selection

Shari Grossman, Ilya Shlyakhter, Elinor K Karlsson, Shervin Tabrizi, Kristian Andersen, John Rinn, Eric Lander, Steve Schaffner, Pardis C Sabeti, The 1000 Genomes Project Genome Biology 2010, 11(Suppl 1):I22 (11 October 2010)

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Tracking genes and finding mutations: finding genes for complex traits in the domestic dog (Canis familiaris)

Elaine A Ostrander, Adam Boyko, Pascale Quignon, Lin Li, Jeffrey J Schoenebeck, Jeremiah D Degenhardt, Kurt E Lohmueller, Keyan Zhao, Abra Brisbin, Heidi G Parker, Bridgett M Von Holdt, Michelle Cargill, Adam Auton, Andy Reynolds, Abdel G Elkahloun, Dana S Mosher, Nathan B Sutter, John Novembre, Melissa J Hubisz, Adam Siepel, Robert K Wayne, Carlos D Bustamante Genome Biology 2010, 11(Suppl 1):I23 (11 October 2010)

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From identification to validation to gene count

Clara Amid, Adam Frankish, HAVANA, Bronwen Aken, Iakes Ezkurdia, Felix Kokocinsk, James Gilbert, Simon White, Piero Carninci, Thomas Gingeras, Roderic Guigo, Steve Searle, Michael L Tress, Jennifer Harrow, Tim Hubbard Genome Biology 2010, 11(Suppl 1):O1 (11 October 2010)

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Next-generation sequencing and the era of personal Y genomes

Qasim Ayub, Luke Jostins, Yali Xue, Daniel Turner, Chris Tyler-Smith, The 1000 Genomes Consortium Genome Biology 2010, 11(Suppl 1):O2 (11 October 2010)

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Genome wide association study SNPs in the human genome diversity project samples: does selection affect unlinked SNPs with shared trait associations?

Amanda M Casto, Marcus W Feldman Genome Biology 2010, 11(Suppl 1):O3 (11 October 2010)

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Genome sequencing and analysis of admixed genomes of African and Mexican ancestry: implications for personal ancestry reconstruction and multi-ethnic medical genomics

Francisco M De La Vega, Katarzyna Bryc, Jeremiah D Degehnardt, Shaila Musharoff, Jeffrey M Kidd, Vrunda Seth, Sarah Stanley, Abra Brisbin, Alon Keinan, Andrew Clark, Carlos D Bustamante Genome Biology 2010, 11(Suppl 1):O4 (11 October 2010)

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Defining the human reference protein-coding gene set

Suganthi Balasubramanian, Lukas Habegger, Adam Frankish, Daniel MacArthur, Rachel Harte, Chris Tyler-Smith, Jennifer Harrow, Mark Gerstein Genome Biology 2010, 11(Suppl 1):O5 (11 October 2010)

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A genomewide ordered-subset linkage analysis for alcohol dependence in African-Americans

Shizhong Han, Bao-Zhu Yang, Henry R Kranzler, Joel Gelernter Genome Biology 2010, 11(Suppl 1):O6 (11 October 2010)

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Statistical methods for comparing the abundances of metabolic pathways in metagenomics

Bo Liu, Mihai Pop Genome Biology 2010, 11(Suppl 1):O7 (11 October 2010)

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The genetic structure of south Asian populations as revealed by 650 000 SNPs

Mait Metspalu, Gyaneshwer Chaubey, Bayazit Yunusbayev, Irene Romero, Monika Karmin, Chandana Mallick, Ene Metspalu, Sadagopal Shanmugalakshmi, Karuppiah Balakrishnan, Kumarasamy Thangaraj, Lalji Singh, Ramasamy Pitchappan, Toomas Kivisild, Richard Villems Genome Biology 2010, 11(Suppl 1):O8 (11 October 2010)

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Candidate genes and biological processes in de novo CNVs from autistic individuals

Hyun J Noh, Christian R Marshall, Dalila Pinto, Stephen W Scherer, Chris P Ponting, Caleb Webber Genome Biology 2010, 11(Suppl 1):O9 (11 October 2010)

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BIC-seq: a fast algorithm for detection of copy number alterations based on high-throughput sequencing data

Ruibin Xi, Joe Luquette, Angela Hadjipanayis, Tae-Min Kim, Peter J Park Genome Biology 2010, 11(Suppl 1):O10 (11 October 2010)

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Beyond the FANTOM4

Harukazu Suzuki, Piero Carninci, Carsten Daub, Jun Kawai, Yoshihide Hayashizaki Genome Biology 2010, 11(Suppl 1):O11 (11 October 2010)

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Beyond the genome (BTG) is a (PGDB) pathway genome database: HumanCyc

Miles Trupp, Tomer Altman, Carol A Fulcher, Ron Caspi, Markus Krummenacker, Suzanne Paley, Peter D Karp Genome Biology 2010, 11(Suppl 1):O12 (11 October 2010)

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A data analysis and coordination center for the human microbiome project

Jennifer Wortman, Michelle Giglio, Heather Creasy, Amy Chen, Konstantinos Liolios, Ken Chu, Noam Davidovics, Mark Mazaitis, Todd DeSantis, Navjeet Singh, Joshua Orvis, Jonathan Crabtree, Victor Felix, Catherine Jordan, Anup Mahurkar, Rob Knight, Gary Andersen, Nikos Kyrpides, Victor Markowitz, Owen White Genome Biology 2010, 11(Suppl 1):O13 (11 October 2010)

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High-efficiency gene targeting in a human pre-B cell line: towards the human gene knockout project

Noritaka Adachi Genome Biology 2010, 11(Suppl 1):P1 (11 October 2010)

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The elastic analysis with galaxy on the cloud

Enis Afgan, Dannon Baker, The Galaxy Team, Anton Nekrutenko, James Taylor Genome Biology 2010, 11(Suppl 1):P2 (11 October 2010)

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Analyzing and minimizing bias in Illumina sequencing libraries

Daniel Aird, Wei-Shen Chen, Michael Ross, Kristen Connolly, Jim Meldrim, Carsten Russ, Sheila Fisher, David Jaffe, Chad Nusbaum, Andreas Gnirke Genome Biology 2010, 11(Suppl 1):P3 (11 October 2010)

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Design and assessment of binary DNA for nanopore sequencing

Pelin Akan, Henrik Stranneheim, Preben Lexow, Joakim Lundeberg Genome Biology 2010, 11(Suppl 1):P4 (11 October 2010)

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A replicative association study of Chromosome 6p21.3 with susceptibility to leprosy in an Indian population - 'a string hypothesis'

Shafat Ali, Rupali Chopra, Shweta Aggarwal, Dheeraj Malhotra, Vijay K Garg, S N Bhattacharya, Rameshwar NK Bamezai Genome Biology 2010, 11(Suppl 1):P5 (11 October 2010)

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Ago-associated human usRNAs and other similar small RNAs

Zhihua Li, Sang Kim, Yuefeng Lin, Patrick S Moore, Yuan Chang, Bino John Genome Biology 2010, 11(Suppl 1):P6 (11 October 2010)

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The coding potential of the human genome: global compositional properties identify with statistical significance a plethora of new potential coding regions

Steven Oden, Luciano Brocchieri Genome Biology 2010, 11(Suppl 1):P7 (11 October 2010)

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Single cell transcriptome analysis upon MCF-7 breast cancer

Yih-Shien Chiang, Lock Seng, You-Yu Lin, Shih-Hao Chen, Yu-Chang Su, Tzu-Han Chen, Hong-Chih Kuo, Chung-Hsuan Chen, Kuo Chiu Genome Biology 2010, 11(Suppl 1):P8 (11 October 2010)

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Evaluation of bacterial ribosomal RNA (rRNA) depletion methods for sequencing microbial community transcriptomes

Dawn Ciulla, Georgia Giannoukos, Ashlee Earl, Michael Feldgarden, Dirk Gevers, Joshua Levin, Jonathan Livny, Doyle Ward, Andreas Gnirke, Chad Nusbaum, Bruce Birren Genome Biology 2010, 11(Suppl 1):P9 (11 October 2010)

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DNA secondary structures and epigenetic determinants of cancer genome evolution

Subhajyoti De, Franziska Michor Genome Biology 2010, 11(Suppl 1):P10 (11 October 2010)

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CIPRO 2.5: Ciona intestinalis Protein Database - a unique integrated repository of large-scale omics data, bioinformatic analyses, and curated annotation, with ability for user rating and comments

Toshinori Endo, Keisuke Ueno, Kouki Yonezawa, Katsuhiko Mineta, Kohji Hotta, Yutaka Satou, Lixy Yamada, Michio Ogasawara, Hiroki Takahashi, Ayako Nakajima, Mia Nakachi, Mamoru Nomura, Junko Yaguchi, Alu Konno, Yasunori Sasakura, Akiyasu C Yoshizawa, Hisaaki Taniguchi, Chisato Yamasaki, Miho Sera, Tadashi Imanishi, Kazuo Inaba Genome Biology 2010, 11(Suppl 1):P11 (11 October 2010)

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The evolutionary dynamics of protein networks

Hai Fang, Julian Gough Genome Biology 2010, 11(Suppl 1):P12 (11 October 2010)

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Genes and genomes, an imperfect world: comparison of gene annotations of two Bos taurus draft assemblies

Liliana Florea, Alexander Souvorov, Steven L Salzberg Genome Biology 2010, 11(Suppl 1):P13 (11 October 2010)

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Reprogramming the human cancer cell nucleus

John Frenster, Jeannette Hovsepian Genome Biology 2010, 11(Suppl 1):P14 (11 October 2010)

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L-Systems: a mathematical paradigm for designing full length human genes and genomes

Arunava Goswami, Pabitra Pal Choudhury, Amita Pal, R L Brahmachary, Sk Hassan Genome Biology 2010, 11(Suppl 1):P15 (11 October 2010)

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The A V E S T A G E N O M E project™ - a discovery model for disease genomics and beyond

S N Guzder, Renuka Jain, Naveen Sharma, Chellappa Gopalkrishnan, Yasmin Shah, Villoo Morawala-Patell Genome Biology 2010, 11(Suppl 1):P16 (11 October 2010)

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Onco-proteogenomics: a novel approach to identify cancer-specific mutations combining proteomics and transcriptome deep sequencing

Mohamed Helmy, Naoyuki Sugiyama, Masaru Tomita, Yasushi Ishihama Genome Biology 2010, 11(Suppl 1):P17 (11 October 2010)

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Sensitive population profiling and genome assembly of HIV and Flaviviruses using ultra-deep sequencing technologies

Matthew R Henn, Niall J Lennon, Ruchi Newman, Patrick Charlebois, Christian Boutwell, Molly OhAinle, Aaron Berlin, Elizabeth Ryan, Christine Malboeuf, Alex Macalalad, Monica Casali, Rachel Erlich, Henry Bigelow, Lisa Green, Sante Gnerre, Sarah Young, Joshua Levin, Chad Nusbaum, Bruce D Walker, Michael S Diamond, Laura D Kramer, Gregory D Ebel, Eva Harris, Todd M Allen, Bruce W Birren Genome Biology 2010, 11(Suppl 1):P18 (11 October 2010)

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Profiling post-translational modifications of proteins that regulate gene expression

Peter Hornbeck, Ela Skrzypek, Bin Zhang, Jon Kornhauser, Sasha Tkachev, Beth Murray, Vaughan Latham Genome Biology 2010, 11(Suppl 1):P19 (11 October 2010)

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Evolution of haplotypes at CCL3L1/CCL4L1

Somwang Janyakhantikul, Danielle Carpenter, John AL Armour Genome Biology 2010, 11(Suppl 1):P20 (11 October 2010)

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Moonlighting proteins

Constance Jeffery Genome Biology 2010, 11(Suppl 1):P21 (11 October 2010)

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A candidate subspecies discrimination system involving a vomeronasal receptor gene with different alleles fixed in M. m. domesticus and M. m. musculus

Robert C Karn, Janet M Young, Christina M Laukaitis Genome Biology 2010, 11(Suppl 1):P22 (11 October 2010)

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CDCOCA: a statistical method to define complexity dependent co-occurring chromosomal aberrations

Nitin Kumar, Hubert Rehrauer, Haoyang Ca, Michael Baudis Genome Biology 2010, 11(Suppl 1):P23 (11 October 2010)

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Identifying gene copy number variants associated with colorectal adenoma recurrence

Christina M Laukaitis, Patricia Thompson, Maria Martinez, Eugene W Gerner Genome Biology 2010, 11(Suppl 1):P24 (11 October 2010)

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Analysis of the copy number profiles of several tumor samples from the same patient reveals the successive steps in tumorigenesis

Eric Letouzé, Yves Allory, Marc A Bollet, François Radvanyi, Frédéric Guyon Genome Biology 2010, 11(Suppl 1):P25 (11 October 2010)

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Development and evaluation of RNA-seq methods

Joshua Levin, Xian Adiconis, Moran Yassour, Dawn Thompson, Mitchell Guttman, Michael Berger, Lin Fan, Nir Friedman, Chad Nusbaum, Andreas Gnirke, Aviv Regev Genome Biology 2010, 11(Suppl 1):P26 (11 October 2010)

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MamPhEA: a web tool for mammalian phenotype enrichment analysis

Meng-Pin Weng, Ben-Yang Liao Genome Biology 2010, 11(Suppl 1):P27 (11 October 2010)

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Visualization, mapping and sequencing of megabase lengths of DNA

Kalim Mir, Liqin Dong, David Bauer, Giuseppe Scozzafava Genome Biology 2010, 11(Suppl 1):P28 (11 October 2010)

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Microarray analysis reveals age-related differences in gene expression during the development of osteoarthritis in mice

Amy Olex, Richard Loeser, Jeff Chou, Mike Callahan, Cristin Ferguson, Jacquelyn S Fetrow Genome Biology 2010, 11(Suppl 1):P29 (11 October 2010)

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DNA barcode profiling: a new platform for the investigation of genome integrity

M L Pedersen Genome Biology 2010, 11(Suppl 1):P30 (11 October 2010)

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Transcriptome profiling from formalin-fixed, paraffin-embedded tumor specimens by RNA-seq

Kunbin Qu, John Morlan, Jim Stephans, Xitong Li, Joffre Baker, Dominick Sinicropi Genome Biology 2010, 11(Suppl 1):P31 (11 October 2010)

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Comprehensive analysis of the molecular bases of OCA in Indians

Kunal Ray, Mainak Sengupta, Moumita Chaki, Maitreyee Mondal, Swapan Samanta Genome Biology 2010, 11(Suppl 1):P32 (11 October 2010)

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A role for statin therapy in Alzheimer's disease

David Richards Genome Biology 2010, 11(Suppl 1):P33 (11 October 2010)

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Genomic alterations in breast cancer patients from Northeast India using 10K SNP arrays

Sunita Saxena, Mishi Kaushal, Jaganath Sharma, Eric Zomawia, Sujala Kapur Genome Biology 2010, 11(Suppl 1):P34 (11 October 2010)

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Complete RNA-seq analysis of cancer transcriptomes from FFPE samples

Shujun Luo, Irina Khrebtukova, Chuck Perou, Gary P Schroth Genome Biology 2010, 11(Suppl 1):P35 (11 October 2010)

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The GENCODE human gene set

S Searle, A Frankish, A Bignell, B Aken, T Derrien, M Diekhans, R Harte, C Howald, F Kokocinski, M Lin, M Tress, M Van Baren, I Barnes, T Hunt, D Carvalho-Silva, C Davidson, S Donaldson, J Gilbert, M Kay, D Lloyd, J Loveland, J Mudge, C Snow, J Vamathevan, L Wilming, M Brent, M Gerstein, R Guigó, M Kellis, A Reymond, A Zadissa, A Valencia, J Harrow, T Hubbard et al. Genome Biology 2010, 11(Suppl 1):P36 (11 October 2010)

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Diverse somatic mutation patterns and pathway alterations in human cancers

Zhengyan Kan, Bijay S Jaiswal, Somasekar Seshagiri Genome Biology 2010, 11(Suppl 1):P37 (11 October 2010)

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Balancing selection in the extended MHC region maintains a subset of alleles with opposite risk profile for different autoimmune diseases

Rachele Cagliani, Stefania Riva, Matteo Fumagalli, Uberto Pozzoli, Giacomo P Comi, Nereo Bresolin, Mario Clerici, Manuela Sironi Genome Biology 2010, 11(Suppl 1):P38 (11 October 2010)

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Making cancer transcriptome sequencing assays practical for the research and clinical scientist

Todd M Smith, N Olson, David Smith Genome Biology 2010, 11(Suppl 1):P39 (11 October 2010)

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Abstract withdrawn

Jialin Sun Genome Biology 2010, 11(Suppl 1):P40 (11 October 2010)

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Relating genomic variation to drug response in childhood acute lymphoblastic leukemia by multiplexed targeted sequencing

Agata Wesolowska, Marlene D Dalgaard, Louise Borst, Laurent Gautier, Mads Bak, Nils Weinhold, Betina F Nielsen, Jacob Nersting, Niels Tommerup, Søren Brunak, Thomas Ponten, Henrik Leffers, Kjeld Schmiegelow, Ramneek Gupta Genome Biology 2010, 11(Suppl 1):P41 (11 October 2010)

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Metagenomic study of Helicobacter pylori microdissected from archived formalin-fixed paraffin-embedded biopsy sections

Zongli Zheng, Anders F Andersson, Weimin Ye, Olof Nyrén, Staffan Normark, Lars Engstrand Genome Biology 2010, 11(Suppl 1):P42 (11 October 2010)

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Evolution of the protein domain repertoire of eukaryotes reveals strong functional patterns

Christian M Zmasek, Adam Godzik Genome Biology 2010, 11(Suppl 1):P43 (11 October 2010)

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Genomic patient information management system

D Dharmiah, M Narasinga Rao, Ravikiran , N Sandeep, V DS Gopal, Allam Appa Rao, GR Sridhar Genome Biology 2010, 11(Suppl 1):P44 (4 November 2010)

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