檢索結果 - Daniel C. Koboldt

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  1. 1
    Best practices for variant calling in clinical sequencing

    Best practices for variant calling in clinical sequencing 由 Daniel C. Koboldt

    出版 2020
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  2. 2
    Using VarScan 2 for Germline Variant Calling and Somatic Mutation Detection

    Using VarScan 2 for Germline Variant Calling and Somatic Mutation Detection 由 Daniel C. Koboldt, David E. Larson, Richard K. Wilson

    出版 2013
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  3. 3
    Analysis of next-generation genomic data in cancer: accomplishments and challenges

    Analysis of next-generation genomic data in cancer: accomplishments and challenges 由 Li Ding, Michael C. Wendl, Daniel C. Koboldt, ER Mardis

    出版 2010
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  4. 4
    Challenges of sequencing human genomes

    Challenges of sequencing human genomes 由 Daniel C. Koboldt, Li Ding, Elaine R. Mardis, Rick K. Wilson

    出版 2010
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  5. 5
    Exome sequencing of case-unaffected-parents trios reveals recessive and de novo genetic variants in sporadic ALS

    Exome sequencing of case-unaffected-parents trios reveals recessive and de novo genetic variants in sporadic ALS 由 Karyn Meltz Steinberg, Bing Yu, Daniel C. Koboldt, Elaine R. Mardis, Roger Pamphlett

    出版 2015
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  6. 6
    The Next-Generation Sequencing Revolution and Its Impact on Genomics

    The Next-Generation Sequencing Revolution and Its Impact on Genomics 由 Daniel C. Koboldt, Karyn Meltz Steinberg, David E. Larson, Richard K. Wilson, Elaine R. Mardis

    出版 2013
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  7. 7
    Comparison of C. elegans and C. briggsae Genome Sequences Reveals Extensive Conservation of Chromosome Organization and Synteny

    Comparison of C. elegans and C. briggsae Genome Sequences Reveals Extensive Conservation of Chromosome Organization and Synteny 由 LaDeana Hillier, Raymond D. Miller, Scott E. Baird, Asif Chinwalla, Lucinda A. Fulton, Daniel C. Koboldt, R Waterston

    出版 2007
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  8. 8
    Caenorhabditis briggsae Recombinant Inbred Line Genotypes Reveal Inter-Strain Incompatibility and the Evolution of Recombination

    Caenorhabditis briggsae Recombinant Inbred Line Genotypes Reveal Inter-Strain Incompatibility and the Evolution of Recombination 由 Joseph A. Ross, Daniel C. Koboldt, Julia Staisch, Helen Chamberlin, Bhagwati P. Gupta, Raymond D. Miller, Scott E. Baird, Eric S. Haag

    出版 2011
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  9. 9
    VarScan: variant detection in massively parallel sequencing of individual and pooled samples

    VarScan: variant detection in massively parallel sequencing of individual and pooled samples 由 Daniel C. Koboldt, Ken Chen, Todd Wylie, David E. Larson, Michael D. McLellan, Elaine R. Mardis, George M. Weinstock, Richard K. Wilson, Li Ding

    出版 2009
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  10. 10
    SomaticSniper: identification of somatic point mutations in whole genome sequencing data

    SomaticSniper: identification of somatic point mutations in whole genome sequencing data 由 David E. Larson, Christopher Harris, Ken Chen, Daniel C. Koboldt, Travis E. Abbott, David J. Dooling, Timothy J. Ley, Elaine R. Mardis, Richard K. Wilson, Li Ding

    出版 2011
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  11. 11
    VarScan 2: Somatic mutation and copy number alteration discovery in cancer by exome sequencing

    VarScan 2: Somatic mutation and copy number alteration discovery in cancer by exome sequencing 由 Daniel C. Koboldt, Qunyuan Zhang, David E. Larson, Dong Shen, Michael D. McLellan, Ling Lin, Christopher A. Miller, Elaine R. Mardis, Li Ding, Richard K. Wilson

    出版 2012
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  12. 12
    MuSiC: Identifying mutational significance in cancer genomes

    MuSiC: Identifying mutational significance in cancer genomes 由 Nathan D. Dees, Qunyuan Zhang, Cyriac Kandoth, Michael C. Wendl, William Schierding, Daniel C. Koboldt, Thomas B. Mooney, Matthew B. Callaway, David J. Dooling, Elaine R. Mardis, Richard K. Wilson, Li Ding

    出版 2012
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  13. 13
    CMDS: a population-based method for identifying recurrent DNA copy number aberrations in cancer from high-resolution data

    CMDS: a population-based method for identifying recurrent DNA copy number aberrations in cancer from high-resolution data 由 Qunyuan Zhang, Li Ding, David E. Larson, Daniel C. Koboldt, Michael D. McLellan, Ken Chen, Xiaoqi Shi, Aldi T. Kraja, Elaine R. Mardis, Richard K. Wilson, Ingrid B. Borecki, Michael A. Province

    出版 2009
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  14. 14
    Activating HER2 Mutations in HER2 Gene Amplification Negative Breast Cancer

    Activating HER2 Mutations in HER2 Gene Amplification Negative Breast Cancer 由 Ron Bose, Shyam M. Kavuri, Adam C. Searleman, Wei Shen, Dong Shen, Daniel C. Koboldt, John Monsey, Nicholas Goel, Adam B. Aronson, Shunqiang Li, X. Cynthia, Li Ding, Elaine R. Mardis, Matthew J. Ellis

    出版 2012
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  15. 15
    Identification of Rare Variants Predisposing to Thyroid Cancer

    Identification of Rare Variants Predisposing to Thyroid Cancer 由 Yanqiang Wang, Sandya Liyanarachchi, Katherine E. Miller, Taina T. Nieminen, Daniel F. Comiskey, Wei Li, Pamela Brock, David E. Symer, Keiko Akagi, Katherine E. DeLap, Huiling He, Daniel C. Koboldt, Albert de la Chapelle

    出版 2019
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  16. 16
    An ensemble approach to accurately detect somatic mutations using SomaticSeq

    An ensemble approach to accurately detect somatic mutations using SomaticSeq 由 Li Tai Fang, Pegah Tootoonchi Afshar, Aparna Chhibber, Marghoob Mohiyuddin, Yu Fan, John C. Mu, Greg Gibeling, Sharon Barr, Narges Bani Asadi, Mark Gerstein, Daniel C. Koboldt, Wenyi Wang, Wing Hung Wong, Hugo Y. K. Lam

    出版 2015
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  17. 17
    Identification of Disease-Causing Mutations in Autosomal Dominant Retinitis Pigmentosa (adRP) Using Next-Generation DNA Sequencing

    Identification of Disease-Causing Mutations in Autosomal Dominant Retinitis Pigmentosa (adRP) Using Next-Generation DNA Sequencing 由 Sara J. Bowne, Lori S. Sullivan, Daniel C. Koboldt, Li Ding, Robert S. Fulton, Rachel M. Abbott, Erica Sodergren, David G. Birch, Dianna H. Wheaton, John R. Heckenlively, Qin Liu, Eric A. Pierce, George M. Weinstock, Stephen P. Daiger

    出版 2010
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  18. 18
    <i>IRF6</i> mutation screening in non‐syndromic orofacial clefting: analysis of 1521 families

    <i>IRF6</i> mutation screening in non‐syndromic orofacial clefting: analysis of 1521 families 由 Elizabeth J. Leslie, Daniel C. Koboldt, Cho Kang, Li Ma, Jacqueline T. Hecht, George L. Wehby, Kaare Christensen, Andrew E. Czeizel, Frederic W.‐B. Deleyiannis, Robert S. Fulton, Richard K. Wilson, Terri H. Beaty, Brian C. Schutte, Jeffrey C. Murray, Mary L. Marazita

    出版 2015
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  19. 19
    Complete characterization of the microRNAome in a patient with acute myeloid leukemia

    Complete characterization of the microRNAome in a patient with acute myeloid leukemia 由 Giridharan Ramsingh, Daniel C. Koboldt, Maria Trissal, Katherine B. Chiappinelli, Todd Wylie, Sunita Koul, Li‐Wei Chang, Rakesh Nagarajan, Todd A. Fehniger, Paul J. Goodfellow, Vincent Magrini, Richard K. Wilson, Li Ding, Timothy J. Ley, Elaine R. Mardis, Daniel C. Link

    出版 2010
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  20. 20
    Next-generation sequencing identifies the natural killer cell microRNA transcriptome

    Next-generation sequencing identifies the natural killer cell microRNA transcriptome 由 Todd A. Fehniger, Todd Wylie, Elizabeth Germino, Jeffrey Leong, Vincent Magrini, Sunita Koul, Catherine R. Keppel, Stephanie Schneider, Daniel C. Koboldt, Ryan P. Sullivan, Michael Heinz, Seth D. Crosby, Rakesh Nagarajan, Giridharan Ramsingh, Daniel C. Link, Timothy J. Ley, Elaine R. Mardis

    出版 2010
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