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There are 37683 results for: content related to: HGV 2012: Leveraging Next-Generation Technology and Large Datasets to Advance Disease Research

  1. You have free access to this content
    Clinical Applications of Next-Generation Sequencing: The 2013 Human Genome Variation Society Scientific Meeting

    Human Mutation

    Volume 34, Issue 11, November 2013, Pages: 1583–1587, Sian Ellard, George P. Patrinos and William S. Oetting

    Version of Record online : 4 SEP 2013, DOI: 10.1002/humu.22400

  2. ICO Amplicon NGS Data Analysis: A Web Tool for Variant Detection in Common High-Risk Hereditary Cancer Genes Analyzed by Amplicon GS Junior Next-Generation Sequencing

    Human Mutation

    Volume 35, Issue 3, March 2014, Pages: 271–277, Adriana Lopez-Doriga, Lídia Feliubadaló, Mireia Menéndez, Sergio Lopez-Doriga, Francisco D. Morón-Duran, Jesús del Valle, Eva Tornero, Eva Montes, Raquel Cuesta, Olga Campos, Carolina Gómez, Marta Pineda, Sara González, Victor Moreno, Gabriel Capellá and Conxi Lázaro

    Version of Record online : 6 DEC 2013, DOI: 10.1002/humu.22484

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    HGVS Nomenclature in Practice: An Example from the United Kingdom National External Quality Assessment Scheme

    Human Mutation

    Volume 37, Issue 6, June 2016, Pages: 576–578, Zandra C. Deans, Jennifer A. Fairley, Johan T den Dunnen and Caroline Clark

    Version of Record online : 18 MAR 2016, DOI: 10.1002/humu.22978

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    Clinically Relevant Variants – Identifying, Collecting, Interpreting, and Disseminating: The 2013 Annual Scientific Meeting of the Human Genome Variation Society

    Human Mutation

    Volume 35, Issue 4, April 2014, Pages: 505–510, Christine M. Stanley, Shamil R. Sunyaev, Marc S. Greenblatt and William S. Oetting

    Version of Record online : 17 MAR 2014, DOI: 10.1002/humu.22516

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    Best Practice Guidelines for the Use of Next-Generation Sequencing Applications in Genome Diagnostics: A National Collaborative Study of Dutch Genome Diagnostic Laboratories

    Human Mutation

    Volume 34, Issue 10, October 2013, Pages: 1313–1321, Marjan M. Weiss, Bert Van der Zwaag, Jan D. H. Jongbloed, Maartje J. Vogel, Hennie T. Brüggenwirth, Ronald H. Lekanne Deprez, Olaf Mook, Claudia A. L. Ruivenkamp, Marjon A. van Slegtenhorst, Arthur van den Wijngaard, Quinten Waisfisz, Marcel R. Nelen and Nienke van der Stoep

    Version of Record online : 19 AUG 2013, DOI: 10.1002/humu.22368

  6. You have full text access to this OnlineOpen article
    Combined NGS Approaches Identify Mutations in the Intraflagellar Transport Gene IFT140 in Skeletal Ciliopathies with Early Progressive Kidney Disease

    Human Mutation

    Volume 34, Issue 5, May 2013, Pages: 714–724, Miriam Schmidts, Valeska Frank, Tobias Eisenberger, Saeed al Turki, Albane A. Bizet, Dinu Antony, Suzanne Rix, Christian Decker, Nadine Bachmann, Martin Bald, Tobias Vinke, Burkhard Toenshoff, Natalia Di Donato, Theresa Neuhann, Jane L. Hartley, Eamonn R. Maher, Radovan Bogdanović, Amira Peco-Antić, Christoph Mache, Matthew E. Hurles, Ivana Joksić, Marija Guć-Šćekić, Jelena Dobricic, Mirjana Brankovic-Magic, UK10K, Hanno J. Bolz, Gregory J. Pazour, Philip L. Beales, Peter J. Scambler, Sophie Saunier, Hannah M. Mitchison and Carsten Bergmann

    Version of Record online : 11 APR 2013, DOI: 10.1002/humu.22294

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    Clinical Interpretation of Variants from Next-Generation Sequencing: The 2016 Scientific Meeting of the Human Genome Variation Society

    Human Mutation

    Volume 37, Issue 10, October 2016, Pages: 1110–1113, William S. Oetting, Anthony J. Brookes, Christophe Béroud and Peter E. Taschner

    Version of Record online : 21 AUG 2016, DOI: 10.1002/humu.23059

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    Recommendations for Analyzing and Reporting TP53 Gene Variants in the High-Throughput Sequencing Era

    Human Mutation

    Volume 35, Issue 6, June 2014, Pages: 766–778, Thierry Soussi, Bernard Leroy and Peter E.M. Taschner

    Version of Record online : 6 MAY 2014, DOI: 10.1002/humu.22561

  9. You have full text access to this OnlineOpen article
    Reflecting on Earlier Experiences with Unsolicited Findings: Points to Consider for Next-Generation Sequencing and Informed Consent in Diagnostics

    Human Mutation

    Volume 34, Issue 10, October 2013, Pages: 1322–1328, Tessel Rigter, Lidewij Henneman, Ulf Kristoffersson, Alison Hall, Helger G. Yntema, Pascal Borry, Holger Tönnies, Quinten Waisfisz, Mariet W. Elting, Wybo J. Dondorp and Martina C. Cornel

    Version of Record online : 16 JUL 2013, DOI: 10.1002/humu.22370

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    BRCA Share: A Collection of Clinical BRCA Gene Variants

    Human Mutation

    Volume 37, Issue 12, December 2016, Pages: 1318–1328, Christophe Béroud, Stanley I. Letovsky, Corey D. Braastad, Sandrine M. Caputo, Olivia Beaudoux, Yves Jean Bignon, Brigitte Bressac-De Paillerets, Myriam Bronner, Crystal M. Buell, Gwenaëlle Collod-Béroud, Florence Coulet, Nicolas Derive, Christina Divincenzo, Christopher D. Elzinga, Céline Garrec, Claude Houdayer, Izabela Karbassi, Sarab Lizard, Angela Love, Danièle Muller, Narasimhan Nagan, Camille R. Nery, Ghadi Rai, Françoise Revillion, David Salgado, Nicolas Sévenet, Olga Sinilnikova, Hagay Sobol, Dominique Stoppa-Lyonnet, Christine Toulas, Edwin Trautman, Dominique Vaur, Paul Vilquin, Katelyn S. Weymouth, Alecia Willis, Laboratory Corporation of America Variant Classification Group, Quest Diagnostics Variant Classification Group, UNICANCER Genetic Group BRCA Laboratory Network, Marcia Eisenberg and Charles M Strom

    Version of Record online : 28 SEP 2016, DOI: 10.1002/humu.23113

  11. A Post-Hoc Comparison of the Utility of Sanger Sequencing and Exome Sequencing for the Diagnosis of Heterogeneous Diseases

    Human Mutation

    Volume 34, Issue 12, December 2013, Pages: 1721–1726, Kornelia Neveling, Ilse Feenstra, Christian Gilissen, Lies H. Hoefsloot, Erik-Jan Kamsteeg, Arjen R. Mensenkamp, Richard J. T. Rodenburg, Helger G. Yntema, Liesbeth Spruijt, Sascha Vermeer, Tuula Rinne, Koen L. van Gassen, Danielle Bodmer, Dorien Lugtenberg, Rick de Reuver, Wendy Buijsman, Ronny C. Derks, Nienke Wieskamp, Bert van den Heuvel, Marjolijn J.L. Ligtenberg, Hannie Kremer, David A. Koolen, Bart P.C. van de Warrenburg, Frans P.M. Cremers, Carlo L.M. Marcelis, Jan A.M. Smeitink, Saskia B. Wortmann, Wendy A.G. van Zelst-Stams, Joris A. Veltman, Han G. Brunner, Hans Scheffer and Marcel R. Nelen

    Version of Record online : 18 OCT 2013, DOI: 10.1002/humu.22450

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    HGVS Recommendations for the Description of Sequence Variants: 2016 Update

    Human Mutation

    Volume 37, Issue 6, June 2016, Pages: 564–569, Johan T. den Dunnen, Raymond Dalgleish, Donna R. Maglott, Reece K. Hart, Marc S. Greenblatt, Jean McGowan-Jordan, Anne-Francoise Roux, Timothy Smith, Stylianos E. Antonarakis and Peter E.M. Taschner, on behalf of the Human Genome Variation Society (HGVS), the Human Variome Project (HVP), and the Human Genome Organisation (HUGO)

    Version of Record online : 25 MAR 2016, DOI: 10.1002/humu.22981

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    Actionable Genes, Core Databases, and Locus-Specific Databases

    Human Mutation

    Volume 37, Issue 12, December 2016, Pages: 1299–1307, Amélie Pinard, Morgane Miltgen, Arnaud Blanchard, Hélène Mathieu, Jean-Pierre Desvignes, David Salgado, Aurélie Fabre, Pauline Arnaud, Laura Barré, Martin Krahn, Philippe Grandval, Sylviane Olschwang, Stéphane Zaffran, Catherine Boileau, Christophe Béroud and Gwenaëlle Collod-Béroud

    Version of Record online : 26 SEP 2016, DOI: 10.1002/humu.23112

  14. Clinical Sensitivity of Cystic Fibrosis Mutation Panels in a Diverse Population

    Human Mutation

    Volume 37, Issue 2, February 2016, Pages: 201–208, Erin E. Hughes, Colleen F. Stevens, Carlos A. Saavedra-Matiz, Norma P. Tavakoli, Lea M. Krein, April Parker, Zhen Zhang, Breanne Maloney, Beth Vogel, Joan DeCelie-Germana, Catherine Kier, Ran D. Anbar, Maria N. Berdella, Paul G. Comber, Allen J. Dozor, Danielle M. Goetz, Louis Guida Jr, Meyer Kattan, Andrew Ting, Karen Z. Voter, The New York State Cystic Fibrosis Newborn Screening Consortium, Patrick van Roey, Michele Caggana and Denise M. Kay

    Version of Record online : 2 DEC 2015, DOI: 10.1002/humu.22927

  15. Transition to Next Generation Analysis of the Whole Mitochondrial Genome: A Summary of Molecular Defects

    Human Mutation

    Volume 34, Issue 6, June 2013, Pages: 882–893, Sha Tang, Jing Wang, Victor Wei Zhang, Fang-Yuan Li, Megan Landsverk, Hong Cui, Cavatina K. Truong, Guoli Wang, Li Chieh Chen, Brett Graham, Fernando Scaglia, Eric S. Schmitt, William J. Craigen and Lee-Jun C. Wong

    Version of Record online : 2 APR 2013, DOI: 10.1002/humu.22307

  16. Mutation Detection by Clonal Sequencing of PCR Amplicons and Grouped Read Typing is Applicable to Clinical Diagnostics

    Human Mutation

    Volume 34, Issue 1, January 2013, Pages: 248–254, Philip A. Chambers, Lucy F. Stead, Joanne E. Morgan, Ian M. Carr, Kate M. Sutton, Christopher M. Watson, Victoria Crowe, Helen Dickinson, Paul Roberts, Clive Mulatero, Matthew Seymour, Alexander F. Markham, Paul M. Waring, Philip Quirke and Graham R. Taylor

    Version of Record online : 11 OCT 2012, DOI: 10.1002/humu.22207

  17. You have full text access to this OnlineOpen article
    UMD-Predictor: A High-Throughput Sequencing Compliant System for Pathogenicity Prediction of any Human cDNA Substitution

    Human Mutation

    Volume 37, Issue 5, May 2016, Pages: 439–446, David Salgado, Jean-Pierre Desvignes, Ghadi Rai, Arnaud Blanchard, Morgane Miltgen, Amélie Pinard, Nicolas Lévy, Gwenaëlle Collod-Béroud and Christophe Béroud

    Version of Record online : 22 FEB 2016, DOI: 10.1002/humu.22965

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    Human Variome Project Quality Assessment Criteria for Variation Databases

    Human Mutation

    Volume 37, Issue 6, June 2016, Pages: 549–558, Mauno Vihinen, John M. Hancock, Donna R. Maglott, Melissa J. Landrum, Gerard C. P. Schaafsma and Peter Taschner

    Version of Record online : 21 MAR 2016, DOI: 10.1002/humu.22976

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    Pathogenicity Interpretation in the Age of Precision Medicine: The 2015 Annual Scientific Meeting of the Human Genome Variation Society

    Human Mutation

    Volume 37, Issue 4, April 2016, Pages: 406–411, William S. Oetting, Steven E. Brenner, Anthony J. Brookes, Marc S. Greenblatt, Reece K. Hart, Rachel Karchin, Shamil R. Sunyaev and Peter E. Taschner

    Version of Record online : 12 FEB 2016, DOI: 10.1002/humu.22958

  20. CoNVaDING: Single Exon Variation Detection in Targeted NGS Data

    Human Mutation

    Volume 37, Issue 5, May 2016, Pages: 457–464, Lennart F. Johansson, Freerk van Dijk, Eddy N. de Boer, Krista K. van Dijk-Bos, Jan D.H. Jongbloed, Annemieke H. van der Hout, Helga Westers, Richard J. Sinke, Morris A. Swertz, Rolf H. Sijmons and Birgit Sikkema-Raddatz

    Version of Record online : 24 FEB 2016, DOI: 10.1002/humu.22969