Search Results

There are 55907 results for: content related to: Whole exome sequencing of pediatric gastric adenocarcinoma reveals an atypical presentation of Li-Fraumeni syndrome

  1. From FastQ Data to High-Confidence Variant Calls: The Genome Analysis Toolkit Best Practices Pipeline

    Unit

    Current Protocols in Bioinformatics

    11:11.10.1–11.10.33

    Geraldine A. Auwera, Mauricio O. Carneiro, Christopher Hartl, Ryan Poplin, Guillermo del Angel, Ami Levy-Moonshine, Tadeusz Jordan, Khalid Shakir, David Roazen, Joel Thibault, Eric Banks, Kiran V. Garimella, David Altshuler, Stacey Gabriel and Mark A. DePristo

    Published Online : 15 OCT 2013, DOI: 10.1002/0471250953.bi1110s43

  2. Optimization of the genotyping-by-sequencing strategy for population genomic analysis in conifers

    Molecular Ecology Resources

    Volume 15, Issue 4, July 2015, Pages: 711–722, Jin Pan, Baosheng Wang, Zhi-Yong Pei, Wei Zhao, Jie Gao, Jian-Feng Mao and Xiao-Ru Wang

    Version of Record online : 20 NOV 2014, DOI: 10.1111/1755-0998.12342

  3. 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

  4. You have free access to this content
    Detection of novel germline mutations for breast cancer in non-BRCA1/2 families

    The FEBS Journal

    Volume 282, Issue 17, September 2015, Pages: 3424–3437, Fatima Aloraifi, Trudi McDevitt, Rui Martiniano, Jonah McGreevy, Russell McLaughlin, Chris M. Egan, Nuala Cody, Marie Meany, Elaine Kenny, Andrew J. Green, Daniel G. Bradley, James G. Geraghty and Adrian P. Bracken

    Version of Record online : 14 JUL 2015, DOI: 10.1111/febs.13352

  5. You have free access to this content
    A survey of single nucleotide polymorphisms identified from whole-genome sequencing and their functional effect in the porcine genome,

    Animal Genetics

    Volume 48, Issue 4, August 2017, Pages: 404–411, B. N. Keel, D. J. Nonneman and G. A. Rohrer

    Version of Record online : 8 MAY 2017, DOI: 10.1111/age.12557

  6. You have free access to this content
    Effective Variant Detection by Targeted Deep Sequencing of DNA Pools: An Example from Parkinson's Disease

    Annals of Human Genetics

    Volume 78, Issue 3, May 2014, Pages: 243–252, Lasse Pihlstrøm, Aina Rengmark, Kari Anne Bjørnarå and Mathias Toft

    Version of Record online : 24 MAR 2014, DOI: 10.1111/ahg.12060

  7. You have full text access to this OnlineOpen article
    Disease variants in genomes of 44 centenarians

    Molecular Genetics & Genomic Medicine

    Volume 2, Issue 5, September 2014, Pages: 438–450, Yun Freudenberg-Hua, Jan Freudenberg, Vladimir Vacic, Avinash Abhyankar, Anne-Katrin Emde, Danny Ben-Avraham, Nir Barzilai, Dayna Oschwald, Erika Christen, Jeremy Koppel, Blaine Greenwald, Robert B. Darnell, Soren Germer, Gil Atzmon and Peter Davies

    Version of Record online : 15 JUN 2014, DOI: 10.1002/mgg3.86

  8. 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

  9. You have free access to this content
    Comprehensive mutation profiling by next-generation sequencing of effusion fluids from patients with high-grade serous ovarian carcinoma

    Cancer Cytopathology

    Volume 123, Issue 5, May 2015, Pages: 289–297, Ronak H. Shah, Sasinya N. Scott, A. Rose Brannon, Douglas A. Levine, Oscar Lin and Michael F. Berger

    Version of Record online : 5 FEB 2015, DOI: 10.1002/cncy.21522

  10. You have free access to this content
    Analysis of DNA sequence variants detected by high-throughput sequencing

    Human Mutation

    Volume 33, Issue 4, April 2012, Pages: 599–608, David R. Adams, Murat Sincan, Karin Fuentes Fajardo, James C. Mullikin, Tyler M. Pierson, Camilo Toro, Cornelius F. Boerkoel, Cynthia J. Tifft, William A. Gahl and Tom C. Markello

    Version of Record online : 28 FEB 2012, DOI: 10.1002/humu.22035

  11. Activating Mutations Affecting the Dbl Homology Domain of SOS2 Cause Noonan Syndrome

    Human Mutation

    Volume 36, Issue 11, November 2015, Pages: 1080–1087, Viviana Cordeddu, Jiani C. Yin, Cecilia Gunnarsson, Carl Virtanen, Séverine Drunat, Francesca Lepri, Alessandro De Luca, Cesare Rossi, Andrea Ciolfi, Trevor J. Pugh, Alessandro Bruselles, James R. Priest, Len A. Pennacchio, Zhibin Lu, Arnavaz Danesh, Rene Quevedo, Alaa Hamid, Simone Martinelli, Francesca Pantaleoni, Maria Gnazzo, Paola Daniele, Christina Lissewski, Gianfranco Bocchinfuso, Lorenzo Stella, Sylvie Odent, Nicole Philip, Laurence Faivre, Marketa Vlckova, Eva Seemanova, Cristina Digilio, Martin Zenker, Giuseppe Zampino, Alain Verloes, Bruno Dallapiccola, Amy E. Roberts, Hélène Cavé, Bruce D. Gelb, Benjamin G. Neel and Marco Tartaglia

    Version of Record online : 3 AUG 2015, DOI: 10.1002/humu.22834

  12. You have free access to this content
    Nature and nurture: a case of transcending haematological pre-malignancies in a pair of monozygotic twins adding possible clues on the pathogenesis of B-cell proliferations

    British Journal of Haematology

    Volume 169, Issue 3, May 2015, Pages: 391–400, Marcus C. Hansen, Charlotte G. Nyvold, Anne S. Roug, Eigil Kjeldsen, Palle Villesen, Line Nederby and Peter Hokland

    Version of Record online : 5 MAR 2015, DOI: 10.1111/bjh.13305

  13. Genomewide ancestry and divergence patterns from low-coverage sequencing data reveal a complex history of admixture in wild baboons

    Molecular Ecology

    Volume 25, Issue 14, July 2016, Pages: 3469–3483, Jeffrey D. Wall, Stephen A. Schlebusch, Susan C. Alberts, Laura A. Cox, Noah Snyder-Mackler, Kimberly A. Nevonen, Lucia Carbone and Jenny Tung

    Version of Record online : 15 JUN 2016, DOI: 10.1111/mec.13684

  14. You have free access to this content
    Whole exome sequencing is an efficient and sensitive method for detection of germline mutations in patients with phaeochromcytomas and paragangliomas

    Clinical Endocrinology

    Volume 80, Issue 1, January 2014, Pages: 25–33, Aideen M. McInerney-Leo, Mhairi S. Marshall, Brooke Gardiner, Diana E. Benn, Janelle McFarlane, Bruce G. Robinson, Matthew A. Brown, Paul J. Leo, Roderick J. Clifton-Bligh and Emma L. Duncan

    Version of Record online : 25 OCT 2013, DOI: 10.1111/cen.12331

  15. Covering Problems

    Network and Discrete Location: Models, Algorithms, and Applications

    Mark S. Daskin, Pages: 92–153, 2011

    Published Online : 22 FEB 2011, DOI: 10.1002/9781118032343.ch4

  16. You have full text access to this OnlineOpen article
    Clinical sequencing: from raw data to diagnosis with lifetime value

    Clinical Genetics

    Accepted manuscript online: 5 DEC 2017, S.M. Caspar, N. Dubacher, A.M. Kopps, J. Meienberg, C. Henggeler and G. Matyas

    DOI: 10.1111/cge.13190

  17. 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

  18. Proteogenomic strategies for identification of aberrant cancer peptides using large-scale next-generation sequencing data

    PROTEOMICS

    Volume 14, Issue 23-24, December 2014, Pages: 2719–2730, Sunghee Woo, Seong Won Cha, Seungjin Na, Clark Guest, Tao Liu, Richard D. Smith, Karin D. Rodland, Samuel Payne and Vineet Bafna

    Version of Record online : 17 NOV 2014, DOI: 10.1002/pmic.201400206

  19. Bioinformatic processing of RAD-seq data dramatically impacts downstream population genetic inference

    Methods in Ecology and Evolution

    Volume 8, Issue 8, August 2017, Pages: 907–917, Aaron B. A. Shafer, Claire R. Peart, Sergio Tusso, Inbar Maayan, Alan Brelsford, Christopher W. Wheat and Jochen B. W. Wolf

    Version of Record online : 28 NOV 2016, DOI: 10.1111/2041-210X.12700

  20. Unavoidable Haemorrhage

    BJOG: An International Journal of Obstetrics & Gynaecology

    Volume 43, Issue 3, June 1936, Pages: 393–434, The Editor

    Version of Record online : 25 AUG 2005, DOI: 10.1111/j.1471-0528.1936.tb14051.x