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There are 97793 results for: content related to: Strategies for exome and genome sequence data analysis in disease-gene discovery projects

  1. 35th Annual David W Smith Workshop on Malformations and Morphogenesis: Abstracts of the 2014 Annual Meeting

    American Journal of Medical Genetics Part A

    Volume 167, Issue 8, August 2015, Pages: 1685–1740, Stephen R. Braddock, Robert J. Lipinski, Marc S. Williams and John C. Carey

    Version of Record online : 22 MAY 2015, DOI: 10.1002/ajmg.a.37107

  2. Exome sequencing and the genetics of intellectual disability

    Clinical Genetics

    Volume 80, Issue 2, August 2011, Pages: 117–126, S Topper, C Ober and S Das

    Version of Record online : 15 JUN 2011, DOI: 10.1111/j.1399-0004.2011.01720.x

  3. You have free access to this content
    The Genomic Birthday Paradox: How Much Is Enough?

    Human Mutation

    Volume 36, Issue 10, October 2015, Pages: 989–997, Peter Krawitz, Orion Buske, Na Zhu, Michael Brudno and Peter N. Robinson

    Version of Record online : 20 AUG 2015, DOI: 10.1002/humu.22848

  4. You have full text access to this OnlineOpen article
    Exome Sequencing as a Diagnostic Tool for Pediatric-Onset Ataxia

    Human Mutation

    Volume 35, Issue 1, January 2014, Pages: 45–49, Sarah L. Sawyer, Jeremy Schwartzentruber, Chandree L. Beaulieu, David Dyment, Amanda Smith, Jodi Warman Chardon, Grace Yoon, Guy A. Rouleau, Oksana Suchowersky, Victoria Siu, Lisa Murphy, Robert A. Hegele, Christian R. Marshall, FORGE Canada Consortium, Dennis E. Bulman, Jacek Majewski, Mark Tarnopolsky and Kym M. Boycott

    Version of Record online : 13 NOV 2013, DOI: 10.1002/humu.22451

  5. You have full text access to this OnlineOpen article
    Rapid Detection of Rare Deleterious Variants by Next Generation Sequencing with Optional Microarray SNP Genotype Data

    Human Mutation

    Volume 36, Issue 9, September 2015, Pages: 823–830, Christopher M. Watson, Laura A. Crinnion, Juliana Gurgel-Gianetti, Sally M. Harrison, Catherine Daly, Agne Antanavicuite, Carolina Lascelles, Alexander F. Markham, Sergio D. J. Pena, David T. Bonthron and Ian M. Carr

    Version of Record online : 22 JUL 2015, DOI: 10.1002/humu.22818

  6. Massively parallel sequencing and identification of genes for primary lymphoedema: a perfect fit

    Clinical Genetics

    Volume 80, Issue 2, August 2011, Pages: 110–116, P Ostergaard, MA Simpson and S Jeffery

    Version of Record online : 13 JUN 2011, DOI: 10.1111/j.1399-0004.2011.01706.x

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    Next-generation sequencing for mitochondrial disorders

    British Journal of Pharmacology

    Volume 171, Issue 8, April 2014, Pages: 1837–1853, C J Carroll, V Brilhante and A Suomalainen

    Version of Record online : 28 MAR 2014, DOI: 10.1111/bph.12469

  8. Exome sequencing for gene discovery in lethal fetal disorders – harnessing the value of extreme phenotypes

    Prenatal Diagnosis

    Volume 35, Issue 10, October 2015, Pages: 1005–1009, Isabel Filges and Jan M. Friedman

    Version of Record online : 22 AUG 2014, DOI: 10.1002/pd.4464

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    The 2015 Annual Meeting of the International Genetic Epidemiology Society

    Genetic Epidemiology

    Volume 39, Issue 7, November 2015, Pages: 529–599,

    Version of Record online : 14 SEP 2015, DOI: 10.1002/gepi.21916

  10. Patient experiences with gene panels based on exome sequencing in clinical diagnostics: high acceptance and low distress

    Clinical Genetics

    Volume 87, Issue 4, April 2015, Pages: 319–326, A.S. Sie, J.B. Prins, W.A.G. van Zelst-Stams, J.A. Veltman, I. Feenstra and N. Hoogerbrugge

    Version of Record online : 22 JUN 2014, DOI: 10.1111/cge.12433

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    Detecting false-positive signals in exome sequencing

    Human Mutation

    Volume 33, Issue 4, April 2012, Pages: 609–613, Karin V. Fuentes Fajardo, David Adams, NISC Comparative Sequencing Program, Christopher E. Mason, Murat Sincan, Cynthia Tifft, Camilo Toro, Cornelius F Boerkoel, William Gahl and Thomas Markello

    Version of Record online : 5 MAR 2012, DOI: 10.1002/humu.22033

  12. Jannovar: A Java Library for Exome Annotation

    Human Mutation

    Volume 35, Issue 5, May 2014, Pages: 548–555, Marten Jäger, Kai Wang, Sebastian Bauer, Damian Smedley, Peter Krawitz and Peter N. Robinson

    Version of Record online : 9 APR 2014, DOI: 10.1002/humu.22531

  13. 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

  14. Exome sequencing expedites disease gene discovery

    Clinical Genetics

    Volume 80, Issue 2, August 2011, Pages: 133–134, K Huang

    Version of Record online : 24 FEB 2011, DOI: 10.1111/j.1399-0004.2011.01645.x

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    An analysis of exome sequencing for diagnostic testing of the genes associated with muscle disease and spastic paraplegia

    Human Mutation

    Volume 33, Issue 4, April 2012, Pages: 614–626, Cristina Dias, Murat Sincan, Praveen F. Cherukuri, Rosemarie Rupps, Yan Huang, Hannah Briemberg, Kathryn Selby, James C. Mullikin, Thomas C. Markello, David R. Adams, William A. Gahl and Cornelius F. Boerkoel

    Version of Record online : 28 FEB 2012, DOI: 10.1002/humu.22032

  16. A Review of Whole-Exome Sequencing Efforts Toward Hereditary Breast Cancer Susceptibility Gene Discovery

    Human Mutation

    Volume 37, Issue 9, September 2016, Pages: 835–846, Madison R. Chandler, Erin P. Bilgili and Nancy D. Merner

    Version of Record online : 27 JUN 2016, DOI: 10.1002/humu.23017

  17. Whole exome or genome sequencing: nurses need to prepare families for the possibilities

    Journal of Advanced Nursing

    Volume 70, Issue 12, December 2014, Pages: 2736–2745, Cynthia A. Prows, Grace Tran and Beverly Blosser

    Version of Record online : 1 SEP 2014, DOI: 10.1111/jan.12516

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    PhenomeCentral: A Portal for Phenotypic and Genotypic Matchmaking of Patients with Rare Genetic Diseases

    Human Mutation

    Volume 36, Issue 10, October 2015, Pages: 931–940, Orion J. Buske, Marta Girdea, Sergiu Dumitriu, Bailey Gallinger, Taila Hartley, Heather Trang, Andriy Misyura, Tal Friedman, Chandree Beaulieu, William P. Bone, Amanda E. Links, Nicole L. Washington, Melissa A. Haendel, Peter N. Robinson, Cornelius F. Boerkoel, David Adams, William A. Gahl, Kym M. Boycott and Michael Brudno

    Version of Record online : 31 AUG 2015, DOI: 10.1002/humu.22851

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    NGS catalog: A database of next generation sequencing studies in humans

    Human Mutation

    Volume 33, Issue 6, June 2012, Pages: E2341–E2355, Junfeng Xia, Qingguo Wang, Peilin Jia, Bing Wang, William Pao and Zhongming Zhao

    Version of Record online : 19 APR 2012, DOI: 10.1002/humu.22096

  20. 36th Annual David W. Smith Workshop on Malformations and Morphogenesis: Abstracts of the 2015 annual meeting

    American Journal of Medical Genetics Part A

    Volume 170, Issue 7, July 2016, Pages: 1665–1726, Karen W. Gripp, Margaret P. Adam, Louanne Hudgins and John C. Carey

    Version of Record online : 27 APR 2016, DOI: 10.1002/ajmg.a.37600