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There are 26181 results for: content related to: Autozygosity Mapping with Exome Sequence Data

  1. 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

  2. You have full text access to this OnlineOpen article
    Robust Diagnostic Genetic Testing Using Solution Capture Enrichment and a Novel Variant-Filtering Interface

    Human Mutation

    Volume 35, Issue 4, April 2014, Pages: 434–441, Christopher M. Watson, Laura A. Crinnion, Joanne E. Morgan, Sally M. Harrison, Christine P. Diggle, Julian Adlard, Helen A. Lindsay, Nick Camm, Ruth Charlton, Eamonn Sheridan, David T. Bonthron, Graham R. Taylor and Ian M. Carr

    Version of Record online : 17 MAR 2014, DOI: 10.1002/humu.22490

  3. Simple and Efficient Identification of Rare Recessive Pathologically Important Sequence Variants from Next Generation Exome Sequence Data

    Human Mutation

    Volume 34, Issue 7, July 2013, Pages: 945–952, Ian M. Carr, Joanne Morgan, Christopher Watson, Svitlana Melnik, Christine P. Diggle, Clare V. Logan, Sally M. Harrison, Graham R. Taylor, Sergio D.J. Pena, Alexander F. Markham, Fowzan S. Alkuraya, Graeme C.M. Black, Manir Ali and David T. Bonthron

    Version of Record online : 29 APR 2013, DOI: 10.1002/humu.22322

  4. You have free access to this content
    Variation Interpretation Predictors: Principles, Types, Performance, and Choice

    Human Mutation

    Volume 37, Issue 6, June 2016, Pages: 579–597, Abhishek Niroula and Mauno Vihinen

    Version of Record online : 15 APR 2016, DOI: 10.1002/humu.22987

  5. You have free access to this content
    CAGI4 Crohn's exome challenge: Marker SNP versus exome variant models for assigning risk of Crohn disease

    Human Mutation

    Lipika R. Pal, Kunal Kundu, Yizhou Yin and John Moult

    Version of Record online : 28 JUN 2017, DOI: 10.1002/humu.23256

  6. 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

  7. wKGGSeq: A Comprehensive Strategy-Based and Disease-Targeted Online Framework to Facilitate Exome Sequencing Studies of Inherited Disorders

    Human Mutation

    Volume 36, Issue 5, May 2015, Pages: 496–503, Mulin Jun Li, Jiaen Deng, Panwen Wang, Wanling Yang, Shu Leong Ho, Pak Chung Sham, Junwen Wang and Miaoxin Li

    Version of Record online : 4 APR 2015, DOI: 10.1002/humu.22766

  8. 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

  9. 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

  10. 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

  11. 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

  12. 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

  13. dbNSFP v3.0: A One-Stop Database of Functional Predictions and Annotations for Human Nonsynonymous and Splice-Site SNVs

    Human Mutation

    Volume 37, Issue 3, March 2016, Pages: 235–241, Xiaoming Liu, Chunlei Wu, Chang Li and Eric Boerwinkle

    Version of Record online : 5 JAN 2016, DOI: 10.1002/humu.22932

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    How to Identify Pathogenic Mutations among All Those Variations: Variant Annotation and Filtration in the Genome Sequencing Era

    Human Mutation

    Volume 37, Issue 12, December 2016, Pages: 1272–1282, David Salgado, Matthew I. Bellgard, Jean-Pierre Desvignes and Christophe Béroud

    Version of Record online : 26 SEP 2016, DOI: 10.1002/humu.23110

  15. EDNRB mutations cause Waardenburg syndrome type II in the heterozygous state

    Human Mutation

    Volume 38, Issue 5, May 2017, Pages: 581–593, Sarah Issa, Nadege Bondurand, Emmanuelle Faubert, Sylvain Poisson, Laure Lecerf, Patrick Nitschke, Naima Deggouj, Natalie Loundon, Laurence Jonard, Albert David, Yves Sznajer, Patricia Blanchet, Sandrine Marlin and Veronique Pingault

    Version of Record online : 15 MAR 2017, DOI: 10.1002/humu.23206

  16. You have free access to this content
    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

  17. You have full text access to this OnlineOpen article
    Classification of Genes: Standardized Clinical Validity Assessment of Gene–Disease Associations Aids Diagnostic Exome Analysis and Reclassifications

    Human Mutation

    Volume 38, Issue 5, May 2017, Pages: 600–608, Erica D. Smith, Kelly Radtke, Mari Rossi, Deepali N. Shinde, Sourat Darabi, Dima El-Khechen, Zöe Powis, Katherine Helbig, Kendra Waller, Dorothy K. Grange, Sha Tang and Kelly D. Farwell Hagman

    Version of Record online : 13 FEB 2017, DOI: 10.1002/humu.23183

  18. You have full text access to this OnlineOpen article
    From Wet-Lab to Variations: Concordance and Speed of Bioinformatics Pipelines for Whole Genome and Whole Exome Sequencing

    Human Mutation

    Volume 37, Issue 12, December 2016, Pages: 1263–1271, Steve Laurie, Marcos Fernandez-Callejo, Santiago Marco-Sola, Jean-Remi Trotta, Jordi Camps, Alejandro Chacón, Antonio Espinosa, Marta Gut, Ivo Gut, Simon Heath and Sergi Beltran

    Version of Record online : 26 SEP 2016, DOI: 10.1002/humu.23114

  19. You have free access to this content
    mirVAFC: A Web Server for Prioritizations of Pathogenic Sequence Variants from Exome Sequencing Data via Classifications

    Human Mutation

    Volume 38, Issue 1, January 2017, Pages: 25–33, Zhongshan Li, Zhenwei Liu, Yi Jiang, Denghui Chen, Xia Ran, Zhong Sheng Sun and Jinyu Wu

    Version of Record online : 13 OCT 2016, DOI: 10.1002/humu.23125

  20. A Cell Type-Specific Expression Signature Predicts Haploinsufficient Autism-Susceptibility Genes

    Human Mutation

    Volume 38, Issue 2, February 2017, Pages: 204–215, Chaolin Zhang and Yufeng Shen

    Version of Record online : 5 DEC 2016, DOI: 10.1002/humu.23147