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There are 19859 results for: content related to: Analysis of DNA sequence variants detected by high-throughput sequencing

  1. Prioritization of Retinal Disease Genes: An Integrative Approach

    Human Mutation

    Volume 34, Issue 6, June 2013, Pages: 853–859, Alex H. Wagner, Kyle R. Taylor, Adam P. DeLuca, Thomas L. Casavant, Robert F. Mullins, Edwin M. Stone, Todd E. Scheetz and Terry A. Braun

    Version of Record online : 12 APR 2013, DOI: 10.1002/humu.22317

  2. You have full text access to this OnlineOpen article
    Evaluation of Hybridization Capture Versus Amplicon-Based Methods for Whole-Exome Sequencing

    Human Mutation

    Volume 36, Issue 9, September 2015, Pages: 903–914, Eric Samorodnitsky, Benjamin M. Jewell, Raffi Hagopian, Jharna Miya, Michele R. Wing, Ezra Lyon, Senthilkumar Damodaran, Darshna Bhatt, Julie W. Reeser, Jharna Datta and Sameek Roychowdhury

    Version of Record online : 15 JUL 2015, DOI: 10.1002/humu.22825

  3. 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

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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

  5. Exome Sequencing Identifies Potential Risk Variants for Mendelian Disorders at High Prevalence in Qatar

    Human Mutation

    Volume 35, Issue 1, January 2014, Pages: 105–116, Juan L. Rodriguez-Flores, Khalid Fakhro, Neil R. Hackett, Jacqueline Salit, Jennifer Fuller, Francisco Agosto-Perez, Maey Gharbiah, Joel A. Malek, Mahmoud Zirie, Amin Jayyousi, Ramin Badii, Ajayeb Al-Nabet Al-Marri, Lotfi Chouchane, Dora J. Stadler, Jason G. Mezey and Ronald G. Crystal

    Version of Record online : 10 NOV 2013, DOI: 10.1002/humu.22460

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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

  7. You have full text access to this OnlineOpen article
    DIAMUND: Direct Comparison of Genomes to Detect Mutations

    Human Mutation

    Volume 35, Issue 3, March 2014, Pages: 283–288, Steven L. Salzberg, Mihaela Pertea, Jill A. Fahrner and Nara Sobreira

    Version of Record online : 13 FEB 2014, DOI: 10.1002/humu.22503

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    Characterizing genetic variation of adrenergic signalling pathways in Takotsubo (stress) cardiomyopathy exomes

    European Journal of Heart Failure

    Volume 16, Issue 9, September 2014, Pages: 942–949, Adele H. Goodloe, Jared M. Evans, Sumit Middha, Abhiram Prasad and Timothy M. Olson

    Version of Record online : 8 AUG 2014, DOI: 10.1002/ejhf.145

  9. 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

  10. Exome sequencing is an efficient tool for genetic screening of Charcot–Marie–Tooth Disease

    Human Mutation

    Volume 33, Issue 11, November 2012, Pages: 1610–1615, Byung-Ok Choi, Soo Kyung Koo, Mi-Hyun Park, Hwanseok Rhee, Song-Ju Yang, Kyoung-Gyu Choi, Sung-Chul Jung, Han Su Kim, Young Se Hyun, Khriezhanuo Nakhro, Hye Jin Lee, Hae-Mi Woo and Ki Wha Chung

    Version of Record online : 5 JUL 2012, DOI: 10.1002/humu.22143

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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. Genetic diagnosis of neuroacanthocytosis disorders using exome sequencing

    Movement Disorders

    Volume 27, Issue 4, April 2012, Pages: 539–543, Ruth H. Walker, Vincent P. Schulz, Irina R. Tikhonova, Milind C. Mahajan, Shrikant Mane, Maritza Arroyo Muniz and Patrick G. Gallagher

    Version of Record online : 28 OCT 2011, DOI: 10.1002/mds.24020

  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. You have full text access to this OnlineOpen article
    Comparison of Exome and Genome Sequencing Technologies for the Complete Capture of Protein-Coding Regions

    Human Mutation

    Volume 36, Issue 8, August 2015, Pages: 815–822, Stefan H. Lelieveld, Malte Spielmann, Stefan Mundlos, Joris A. Veltman and Christian Gilissen

    Version of Record online : 11 JUN 2015, DOI: 10.1002/humu.22813

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    Whole genome/exome sequencing in mood and psychotic disorders

    Psychiatry and Clinical Neurosciences

    Volume 69, Issue 2, February 2015, Pages: 65–76, Tadafumi Kato

    Version of Record online : 9 NOV 2014, DOI: 10.1111/pcn.12247

  16. The genomic landscape of oesophagogastric junctional adenocarcinoma

    The Journal of Pathology

    Volume 231, Issue 3, November 2013, Pages: 301–310, Irene Y Chong, David Cunningham, Louise J Barber, James Campbell, Lina Chen, Iwanka Kozarewa, Kerry Fenwick, Ioannis Assiotis, Sebastian Guettler, Isaac Garcia-Murillas, Saima Awan, Maryou Lambros, Naureen Starling, Andrew Wotherspoon, Gordon Stamp, David Gonzalez-de-Castro, Martin Benson, Ian Chau, Sanna Hulkki, Mahrokh Nohadani, Zakaria Eltahir, Alina Lemnrau, Nicholas Orr, Sheela Rao, Christopher J Lord and Alan Ashworth

    Version of Record online : 9 OCT 2013, DOI: 10.1002/path.4247

  17. 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

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

    Prenatal Diagnosis

    Volume 35, Issue 11, November 2015, Pages: 1073–1078, Christina L. Alamillo, Zöe Powis, Kelly Farwell, Layla Shahmirzadi, Elaine C. Weltmer, John Turocy, Thomas Lowe, Christine Kobelka, Emily Chen, Donald Basel, Elena Ashkinadze, Lisa D'Augelli, Elizabeth Chao and Sha Tang

    Version of Record online : 3 AUG 2015, DOI: 10.1002/pd.4648

  19. An Evaluation of Copy Number Variation Detection Tools from Whole-Exome Sequencing Data

    Human Mutation

    Volume 35, Issue 7, July 2014, Pages: 899–907, Renjie Tan, Yadong Wang, Sarah E. Kleinstein, Yongzhuang Liu, Xiaolin Zhu, Hongzhe Guo, Qinghua Jiang, Andrew S. Allen and Mingfu Zhu

    Version of Record online : 1 MAY 2014, DOI: 10.1002/humu.22537

  20. 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