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  1. 1
    Targeted polymerase chain reaction-based enrichment and next generation sequencing for diagnostic testing of congenital disorders of glycosylation

    Targeted polymerase chain reaction-based enrichment and next generation sequencing for diagnostic testing of congenital disorders of glycosylation di Melanie A. Jones, Shruti Bhide, Ephrem Chin, Bobby G. Ng, Devin Rhodenizer, Victor Wei Zhang, Jessica Sun, Alice Tanner, Hudson H. Freeze, Madhuri Hegde

    Pubblicazione 2011
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  2. 2
    Cancer Driver Log (CanDL)

    Cancer Driver Log (CanDL) di Senthilkumar Damodaran, Jharna Miya, Esko A. Kautto, Eliot Y. Zhu, Eric Samorodnitsky, Jharna Datta, Julie W. Reeser, Sameek Roychowdhury

    Pubblicazione 2015
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  3. 3
    Development and Validation of a Next-Generation Sequencing Assay for BRCA1 and BRCA2 Variants for the Clinical Laboratory

    Development and Validation of a Next-Generation Sequencing Assay for BRCA1 and BRCA2 Variants for the Clinical Laboratory di Charles M. Strom, Steven Rivera, Christopher Elzinga, Taraneh Angeloni, Sun Hee Rosenthal, Dana M. Goos-Root, Martin Siaw, Jamie L. Platt, Cory Braastadt, Linda Cheng, David A. Ross, Weimin Sun

    Pubblicazione 2015
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  4. 4
    Massively parallel high-order combinatorial genetics in human cells

    Massively parallel high-order combinatorial genetics in human cells di Alan S.L. Wong, Gigi C.G. Choi, Allen A. Cheng, Oliver Purcell, Timothy K. Lu

    Pubblicazione 2015
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  5. 5
    Validation of next-generation sequencing for comprehensive chromosome screening of embryos

    Validation of next-generation sequencing for comprehensive chromosome screening of embryos di A. Kung, S. Munné, Brandon Bankowski, A. Coates, Dagan Wells

    Pubblicazione 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 di 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

    Pubblicazione 2015
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  7. 7
    Mitochondrial Sequence Analysis for Forensic Identification Using Pyrosequencing Technology

    Mitochondrial Sequence Analysis for Forensic Identification Using Pyrosequencing Technology di H. Andréasson, A. Asp, Anders Alderborn, U. Gyllensten, Maxine Allen

    Pubblicazione 2002
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  8. 8
    Underlying Data for Sequencing the Mitochondrial Genome with the Massively Parallel Sequencing Platform Ion Torrent™ PGM™

    Underlying Data for Sequencing the Mitochondrial Genome with the Massively Parallel Sequencing Platform Ion Torrent™ PGM™ di Seung Bum Seo, Xiangpei Zeng, Jonathan L. King, Bobby LaRue, Mourad Assidi, Mohamed H. Alqahtani, Antti Sajantila, Bruce Budowle

    Pubblicazione 2015
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  9. 9
    Benefits and limitations of whole genome versus targeted approaches for noninvasive prenatal testing for fetal aneuploidies

    Benefits and limitations of whole genome versus targeted approaches for noninvasive prenatal testing for fetal aneuploidies di Elles M. J. Boon, Brigitte H. W. Faas

    Pubblicazione 2013
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  10. 10
    Noninvasive prenatal detection of sex chromosomal aneuploidies by sequencing circulating cell‐free DNA from maternal plasma

    Noninvasive prenatal detection of sex chromosomal aneuploidies by sequencing circulating cell‐free DNA from maternal plasma di Amin R. Mazloom, Željko Džakula, Paul Oeth, Huiquan Wang, Taylor J. Jensen, John A. Tynan, Ron McCullough, Juan‐Sebastian Saldivar, Mathias Ehrich, Dirk van den Boom, Allan T. Bombard, Margo Maeder, Graham McLennan, Wendy S. Meschino, Glenn E. Palomaki, Jacob A. Canick, Cosmin Deciu

    Pubblicazione 2013
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  11. 11
    Preparation of Single‐Cell RNA‐Seq Libraries for Next Generation Sequencing

    Preparation of Single‐Cell RNA‐Seq Libraries for Next Generation Sequencing di John J. Trombetta, David Gennert, Diana Lu, Rahul Satija, Alex K. Shalek, Aviv Regev

    Pubblicazione 2014
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  12. 12
    Construction of Normalized RNA‐seq Libraries for Next‐Generation Sequencing Using the Crab Duplex‐Specific Nuclease

    Construction of Normalized RNA‐seq Libraries for Next‐Generation Sequencing Using the Crab Duplex‐Specific Nuclease di Danos C. Christodoulou, Joshua M. Gorham, Daniel S. Herman, Jonathan G. Seidman

    Pubblicazione 2011
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  13. 13
    Brief Report: Whole‐Exome Sequencing Revealing Somatic <i>NLRP3</i> Mosaicism in a Patient With Chronic Infantile Neurologic, Cutaneous, Articular Syndrome

    Brief Report: Whole‐Exome Sequencing Revealing Somatic <i>NLRP3</i> Mosaicism in a Patient With Chronic Infantile Neurologic, Cutaneous, Articular Syndrome di Ebun Omoyinmi, Sónia Gomes, Ariane Standing, Dorota Rowczenio, Despina Eleftheriou, Nigel Klein, Juan I. Aróstegui, Helen J. Lachmann, Philip N. Hawkins, Paul Brogan

    Pubblicazione 2013
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  14. 14
    Noninvasive fetal genotyping of human platelet antigen‐1a using targeted massively parallel sequencing

    Noninvasive fetal genotyping of human platelet antigen‐1a using targeted massively parallel sequencing di Sandra Wienzek‐Lischka, Annika Krautwurst, V Fröhner, Holger Hackstein, Stefan Gattenlöhner, Andreas Bräuninger, R Axt-Fliedner, J Degenhardt, Christina Deisting, Sentot Santoso, Ulrich J. Sachs, Gregor Bein

    Pubblicazione 2015
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  15. 15
    Determination of the allelic frequency in Smith–Lemli–Opitz syndrome by analysis of massively parallel sequencing data sets

    Determination of the allelic frequency in Smith–Lemli–Opitz syndrome by analysis of massively parallel sequencing data sets di Jennifer L. Cross, James Iben, Claire L. Simpson, Audrey Thurm, Susan E. Swedo, Elaine Tierney, Joan E. Bailey‐Wilson, Leslie G. Biesecker, Forbes D. Porter, Christopher A. Wassif

    Pubblicazione 2014
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  16. 16
    <i><scp>KRAS</scp></i> (but not <i><scp>BRAF</scp></i>) mutations in ovarian serous borderline tumour are associated with recurrent low‐grade serous carcinoma

    <i><scp>KRAS</scp></i> (but not <i><scp>BRAF</scp></i>) mutations in ovarian serous borderline tumour are associated with recurrent low‐grade serous carcinoma di Yvonne T.M. Tsang, Michael T. Deavers, Charlotte C. Sun, Suet‐Yan Kwan, Eric Kuo, Anaís Malpica, Samuel C. Mok, David M. Gershenson, Kwong‐Kwok Wong

    Pubblicazione 2013
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  17. 17
    Clinical applications of next generation sequencing in cancer: from panels, to exomes, to genomes

    Clinical applications of next generation sequencing in cancer: from panels, to exomes, to genomes di Tony S. Shen, Stefan Hans Pajaro-Van de Stadt, Nai Chien Yeat, Jimmy Lin

    Pubblicazione 2015
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  18. 18
    Non‐invasive prenatal testing for aneuploidy: current status and future prospects

    Non‐invasive prenatal testing for aneuploidy: current status and future prospects di Peter Benn, Howard Cuckle, Eugene Pergament

    Pubblicazione 2013
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  19. 19
    Dynamics in Transcriptomics: Advancements in RNA-seq Time Course and Downstream Analysis

    Dynamics in Transcriptomics: Advancements in RNA-seq Time Course and Downstream Analysis di Daniel Spies, Constance Ciaudo

    Pubblicazione 2015
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  20. 20
    Progress and prospects of next-generation sequencing testing for inherited retinal dystrophy

    Progress and prospects of next-generation sequencing testing for inherited retinal dystrophy di John Chiang, Tina M. Lamey, Terri L. McLaren, Jennifer A. Thompson, H. C. Montgomery, John N. De Roach

    Pubblicazione 2015
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