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Human genomics

Molecular Diagnosis of Neonatal Diabetes Mellitus Using Next-Generation Sequencing of the Whole Exome

Amélie Bonnefond, Emmanuelle Durand, Olivier Sand, Franck De Graeve, Sophie Gallina, Kanetee Busiah, Stéphane Lobbens, Albane Simon, Christine Bellanné-Chantelot, Louis Létourneau, Raphael Scharfmann, Jérôme Delplanque, Robert Sladek, Michel Polak, Martine Vaxillaire, Philippe Froguel

published 26 Oct 2010

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Non-Synonymous and Synonymous Coding SNPs Show Similar Likelihood and Effect Size of Human Disease Association

Rong Chen, Eugene V. Davydov, Marina Sirota, Atul J. Butte

published 22 Oct 2010

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Development of a Low Bias Method for Characterizing Viral Populations Using Next Generation Sequencing Technology

Stephanie M. Willerth, Hélder A. M. Pedro, Lior Pachter, Laurent M. Humeau, Adam P. Arkin, David V. Schaffer

published 22 Oct 2010

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A Metagenomic Analysis of Pandemic Influenza A (2009 H1N1) Infection in Patients from North America

Alexander L. Greninger, Eunice C. Chen, Taylor Sittler, Alex Scheinerman, Nareg Roubinian, Guixia Yu, Edward Kim, Dylan R. Pillai, Cyril Guyard, Tony Mazzulli, Pavel Isa, Carlos F. Arias, John Hackett Jr, Gerald Schochetman, Steve Miller, Patrick Tang, Charles Y. Chiu

published 18 Oct 2010

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Expression of Conjoined Genes: Another Mechanism for Gene Regulation in Eukaryotes

Tulika Prakash, Vineet K. Sharma, Naoki Adati, Ritsuko Ozawa, Naveen Kumar, Yuichiro Nishida, Takayoshi Fujikake, Tadayuki Takeda, Todd D. Taylor

published 12 Oct 2010

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Deciphering Heterogeneity in Pig Genome Assembly Sscrofa9 by Isochore and Isochore-Like Region Analyses

Wenqian Zhang, Wenwu Wu, Wenchao Lin, Pengfang Zhou, Li Dai, Yang Zhang, Jingfei Huang, Deli Zhang

published 11 Oct 2010

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Ultra High Throughput Sequencing in Human DNA Variation Detection: A Comparative Study on the NDUFA3-PRPF31 Region

Paola Benaglio, Carlo Rivolta

published 29 Sep 2010

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Genome-Wide DNA Methylation Maps in Follicular Lymphoma Cells Determined by Methylation-Enriched Bisulfite Sequencing

Jeong-Hyeon Choi, Yajun Li, Juyuan Guo, Lirong Pei, Tibor A. Rauch, Robin S. Kramer, Simone L. Macmil, Graham B. Wiley, Lynda B. Bennett, Jennifer L. Schnabel, Kristen H. Taylor, Sun Kim, Dong Xu, Arun Sreekumar, Gerd P. Pfeifer, Bruce A. Roe, Charles W. Caldwell, Kapil N. Bhalla, Huidong Shi

published 29 Sep 2010

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Murasaki: A Fast, Parallelizable Algorithm to Find Anchors from Multiple Genomes

Kris Popendorf, Hachiya Tsuyoshi, Yasunori Osana, Yasubumi Sakakibara

published 24 Sep 2010

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Domain Altering SNPs in the Human Proteome and Their Impact on Signaling Pathways

Yichuan Liu, Aydin Tozeren

published 23 Sep 2010

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Reference-Free Validation of Short Read Data

Jan Schröder, James Bailey, Thomas Conway, Justin Zobel

published 22 Sep 2010

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Identification and Expression of the Family of Classical Protein-Tyrosine Phosphatases in Zebrafish

Mark van Eekelen, John Overvoorde, Carina van Rooijen, Jeroen den Hertog

published 03 Sep 2010

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Genome Rearrangements Detected by SNP Microarrays in Individuals with Intellectual Disability Referred with Possible Williams Syndrome

Ariel M. Pani, Holly H. Hobart, Colleen A. Morris, Carolyn B. Mervis, Patricia Bray-Ward, Kendra W. Kimberley, Cecilia M. Rios, Robin C. Clark, Maricela D. Gulbronson, Gordon C. Gowans, Ronald G. Gregg

published 31 Aug 2010

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