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  1. 1
    Robust gene expression and mutation analyses of RNA-sequencing of formalin-fixed diagnostic tumor samples

    Robust gene expression and mutation analyses of RNA-sequencing of formalin-fixed diagnostic tumor samples by Stefan Graw, Richard Meier, Kay Minn, Clark Bloomer, Andrew K. Godwin, Brooke L. Fridley, Anda Vlad, Peter Beyerlein, Jeremy Chien

    Published 2015
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  2. 2
    The Presence of ASXL1 Mutations As Well As a Total Number of Myeloid Driver Mutations Higher Than Two Is Strongly Associated with the Diagnosis of Primary Myelofibrosis As Opposed to Essential Thrombocythemia

    The Presence of ASXL1 Mutations As Well As a Total Number of Myeloid Driver Mutations Higher Than Two Is Strongly Associated with the Diagnosis of Primary Myelofibrosis As Opposed... by Paulo Vidal Campregher, Ricardo Helman, Welbert Oliveira Pereira, Renato Puga, Bianca Cristina Garcia Lisbôa, Evelyn Helena Ascendino, Mariana Yasue Saito Miyagi, Sandra Nakashima Yoshida, Isabel Bello, Michelli Silva Diniz, Guilherme Fleury Perini, Tarcila Santos Datoguia, Elvira Deolinda Rodrigues Pereira Velloso, Joao Carlos Guerra, Paulo Augusto Achucarro Silveira, Nydia Strachman Bacal, Roberta Cardoso Petroni, Juliane Musacchio, Rodrigo Santucci, Ana Fernandes Schriefer, Marco Aurélio Salvino, Rodolfo Daniel de Almeida Soares, Manuela Pinto Tibúrcio, Leila Martins Perobelli, Eizabeth Xisto Souto, Danielle Leão Cordeiro de Farias, Marcia Higashi, Adriana Valente Fadel, Carolina Kassab, Leandro Padua, Patricia W Bollman, Denise da Cunha Pasqualin, Alanna Mara Pinheiro Sobreira Bezerra, Marinus de Moraes Lima, Erika MM Costa, Vinicius R. P. Mattos, Fernando Ferreira Costa, Nelson Hamerschlak, Fábio Pires de Souza Santos

    Published 2014
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  3. 3
    Whole Exome Sequencing Reveals Mutations in Known Retinal Disease Genes in 33 out of 68 Israeli Families with Inherited Retinopathies

    Whole Exome Sequencing Reveals Mutations in Known Retinal Disease Genes in 33 out of 68 Israeli Families with Inherited Retinopathies by Avigail Beryozkin, Elia Shevah, Adva Kimchi, Liliana Mizrahi‐Meissonnier, Samer Khateb, Rinki Ratnapriya, Csilla H. Lazar, Anat Blumenfeld, Tamar Ben‐Yosef, Yitzhak Hemo, Jacob Pe’er, Eduard Averbuch, Michal Sagi, Alexis Boleda, Linn Gieser, Abraham Zlotogorski, Tzipora C. Falik‐Zaccai, Ola Alimi-Kasem, Samuel G. Jacobson, Itay Chowers, Anand Swaroop, Eyal Banin, Dror Sharon

    Published 2015
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  4. 4
    MSIseq: Software for Assessing Microsatellite Instability from Catalogs of Somatic Mutations

    MSIseq: Software for Assessing Microsatellite Instability from Catalogs of Somatic Mutations by Mi Ni Huang, John R. McPherson, Ioana Cutcutache, Bin Tean Teh, Patrick Tan, Steve Rozen

    Published 2015
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  5. 5
    Clinical Tumor Sequencing: Opportunities and Challenges for Precision Cancer Medicine

    Clinical Tumor Sequencing: Opportunities and Challenges for Precision Cancer Medicine by Senthilkumar Damodaran, Michael F. Berger, Sukla Roychowdhury

    Published 2015
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  6. 6
    STAG3 truncating variant as the cause of primary ovarian insufficiency

    STAG3 truncating variant as the cause of primary ovarian insufficiency by Polona Le Quesne Stabej, Hywel Williams, Chela James, Mehmet Tekman, Horia Stanescu, Robert Kleta, Louise Ocaka, Francesco Lescai, Helen L. Storr, Maria Bitner‐Glindzicz, Chiara Bacchelli, Gerard S. Conway

    Published 2015
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  7. 7
    Mutations in human IFT140 cause non-syndromic retinal degeneration

    Mutations in human IFT140 cause non-syndromic retinal degeneration by Mingchu Xu, Lizhu Yang, Feng Wang, Huajin Li, Xia Wang, Weichen Wang, Zhongqi Ge, Keqing Wang, Li Zhao, Hui Li, Yumei Li, Ruifang Sui, Rui Chen

    Published 2015
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  8. 8
    Identification of embryonic lethal genes in humans by autozygosity mapping and exome sequencing in consanguineous families

    Identification of embryonic lethal genes in humans by autozygosity mapping and exome sequencing in consanguineous families by Hanan E. Shamseldin, Maha Tulbah, Wesam Kurdi, Maha Nemer, Nada Alsahan, Elham Al Mardawi, Ola Khalifa, Amal Hashem, Ahmed M Kurdi, Zainab Babay, Dalal Bubshait, Niema Ibrahim, Firdous Abdulwahab, Zuhair Rahbeeni, Mais Hashem, Fowzan S. Alkuraya

    Published 2015
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  9. 9
    Brief Report: Cryopyrin‐Associated Periodic Syndrome Caused by a Myeloid‐Restricted Somatic <i>NLRP3</i> Mutation

    Brief Report: Cryopyrin‐Associated Periodic Syndrome Caused by a Myeloid‐Restricted Somatic <i>NLRP3</i> Mutation by Qing Zhou, Ivona Aksentijevich, Geryl Wood, Avram Walts, Patrycja Hoffmann, Elaine F. Remmers, Daniel L. Kastner, Amanda K. Ombrello

    Published 2015
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  10. 10
    Leveraging the Power of High Performance Computing for Next Generation Sequencing Data Analysis: Tricks and Twists from a High Throughput Exome Workflow

    Leveraging the Power of High Performance Computing for Next Generation Sequencing Data Analysis: Tricks and Twists from a High Throughput Exome Workflow by Amit Kawalia, Susanne Motameny, Stephan Wonczak, Hölger Thiele, Lech Nieroda, Kamel Jabbari, Stefan Borowski, Vishal Sinha, Wilfried Gunia, Ulrich Lang, Viktor Achter, Peter Nürnberg

    Published 2015
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  11. 11
    Identification of driver genes in hepatocellular carcinoma by exome sequencing

    Identification of driver genes in hepatocellular carcinoma by exome sequencing by Sean P. Cleary, William R. Jeck, Xiaobei Zhao, Kui Chen, Sara R. Selitsky, Gleb L. Savich, Ting Xu Tan, Michael C. Wu, Gad Getz, Michael S. Lawrence, Joel S. Parker, Jinyu Li, Scott Powers, Hyeja Kim, Sandra E. Fischer, Maha Guindi, Anand Ghanekar, Derek Y. Chiang

    Published 2013
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  12. 12
    Mendel,MD: a user-friendly online program for clinical exome analysis

    Mendel,MD: a user-friendly online program for clinical exome analysis by Raony Guimarães Corrêa Do Carmo Lis Cardenas, Natália D. Linhares, Sérgio D.J. Pena

    Published 2015
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  13. 13
    Exome Sequencing Identifies a Missense Variant in EFEMP1 Co-Segregating in a Family with Autosomal Dominant Primary Open-Angle Glaucoma

    Exome Sequencing Identifies a Missense Variant in EFEMP1 Co-Segregating in a Family with Autosomal Dominant Primary Open-Angle Glaucoma by Donna S. Mackay, Thomas M. Bennett, Alan Shiels

    Published 2015
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  14. 14
    Exome sequencing positively identified relevant alterations in more than half of cases with an indication of prenatal ultrasound anomalies

    Exome sequencing positively identified relevant alterations in more than half of cases with an indication of prenatal ultrasound anomalies by Christina L. Alamillo, Zöe Powis, Kelly D. Farwell, Layla Shahmirzadi, Elaine Weltmer, John Turocy, Thomas W. Lowe, Christine Kobelka, Emily Chen, Donald Basel, Elena Ashkinadze, Lisa D'Augelli, Elizabeth Chao, Sha Tang

    Published 2015
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  15. 15
    Reviewing the somatic genetics of melanoma: from current to future analytical approaches

    Reviewing the somatic genetics of melanoma: from current to future analytical approaches by Ken Dutton‐Regester, Nicholas K. Hayward

    Published 2012
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  16. 16
    Detection of Genomic Structural Variants from Next-Generation Sequencing Data

    Detection of Genomic Structural Variants from Next-Generation Sequencing Data by Lorenzo Tattini, Romina D’Aurizio, Alberto Magi

    Published 2015
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  17. 17
    Individualized Iterative Phenotyping for Genome-wide Analysis of Loss-of-Function Mutations

    Individualized Iterative Phenotyping for Genome-wide Analysis of Loss-of-Function Mutations by Jennifer J. Johnston, Katie L. Lewis, David Ng, Larry N. Singh, Jamila Wynter, Carmen C. Brewer, Brian P. Brooks, Isaac Brownell, Fabio Candotti, Stephen G. Gonsalves, Suzanne Hart, Heidi H. Kong, Kristina I. Rother, Robert Sokolic, Benjamin D. Solomon, Wadih M. Zein, D.N. Cooper, Peter D. Stenson, James C. Mullikin, Leslie G. Biesecker

    Published 2015
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  18. 18
    Genome Modeling System: A Knowledge Management Platform for Genomics

    Genome Modeling System: A Knowledge Management Platform for Genomics by Malachi Griffith, Obi L. Griffith, Scott M. Smith, Avinash Ramu, Matthew B. Callaway, Anthony M. Brummett, Michael J. Kiwala, Adam Coffman, Allison Regier, Ben J. Oberkfell, Gabriel E. Sanderson, Thomas P. Mooney, Nathaniel G. Nutter, Edward A. Belter, Feiyu Du, Robert L. Long, Travis E. Abbott, Ian Ferguson, David Morton, Mark M. Burnett, James V. Weible, Joshua B. Peck, Adam F. Dukes, Joshua F. McMichael, Justin T. Lolofie, Brian R. Derickson, Jasreet Hundal, Zachary L. Skidmore, Benjamin J. Ainscough, Nathan D. Dees, William Schierding, Cyriac Kandoth, Kyung H. Kim, Charles Lu, Christopher Harris, Nicole Maher, Christopher A. Maher, Vincent Magrini, Benjamin Abbott, Ken Chen, Eric M. Clark, Indraniel Das, Xian Fan, Amy Hawkins, Todd G. Hepler, Todd Wylie, Shawn Leonard, W.E. Schroeder, Xiaoqi Shi, Lynn K. Carmichael, Matthew R. Weil, Richard W. Wohlstadter, Gary Stiehr, Michael D. McLellan, Craig Pohl, Christopher A. Miller, Daniel C. Koboldt, Jason Walker, James M. Eldred, David E. Larson, David J. Dooling, Li Ding, Elaine R. Mardis, Richard K. Wilson

    Published 2015
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  19. 19
    Whole-exome sequencing of primary plasma cell leukemia discloses heterogeneous mutational patterns

    Whole-exome sequencing of primary plasma cell leukemia discloses heterogeneous mutational patterns by Ingrid Cifola, Marta Lionetti, Eva Pinatel, Katia Todoerti, Eleonora Mangano, Alessandro Pietrelli, Sonia Fabris, Laura Mosca, Vittorio Simeon, Maria Teresa Petrucci, Fortunato Morabito, Massimo Offidani, Francesco Di Raimondo, Antonietta Falcone, Tommaso Caravita, Cristina Battaglia, Gianluca De Bellis, Antonio Palumbo, Pellegrino Musto, Antonino Neri

    Published 2015
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  20. 20
    Distinct evolutionary trajectories of primary high‐grade serous ovarian cancers revealed through spatial mutational profiling

    Distinct evolutionary trajectories of primary high‐grade serous ovarian cancers revealed through spatial mutational profiling by Ali Bashashati, Gavin Ha, Alicia Tone, Jiarui Ding, Leah Prentice, Andrew Roth, Jamie Rosner, Karey Shumansky, Steve E. Kalloger, Janine Senz, Winnie Yang, Melissa K. McConechy, Nataliya Melnyk, Michael S. Anglesio, Margaret Luk, Kane Tse, Thomas Zeng, Richard A. Moore, Yongjun Zhao, Marco A. Marra, C. Blake Gilks, Stephen Yip, David G. Huntsman, Jessica N. McAlpine, Sohrab P. Shah

    Published 2013
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