Bilaketaren emaitzak

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

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

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Development and Validation of a Next-Generation Sequencing Assay for BRCA1 and BRCA2 Variants for the Clinical Laboratory nork 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

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

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

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STAG3 truncating variant as the cause of primary ovarian insufficiency nork 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

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

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

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

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Noninvasive prenatal detection of sex chromosomal aneuploidies by sequencing circulating cell‐free DNA from maternal plasma nork 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

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

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

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

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Noninvasive fetal genotyping of human platelet antigen‐1a using targeted massively parallel sequencing nork 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

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Determination of the allelic frequency in Smith–Lemli–Opitz syndrome by analysis of massively parallel sequencing data sets nork 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

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<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 nork 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

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

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

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

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

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