Bilaketaren emaitzak - Aaron M. Wenger

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  1. 1
    Systematic reanalysis of clinical exome data yields additional diagnoses: implications for providers

    Systematic reanalysis of clinical exome data yields additional diagnoses: implications for providers nork Aaron M. Wenger, Harendra Guturu, Jonathan A. Bernstein, Gill Bejerano

    Argitaratua 2016
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  2. 2
    Variant Review with the Integrative Genomics Viewer

    Variant Review with the Integrative Genomics Viewer nork James Robinson, Helga Thorvaldsdóttir, Aaron M. Wenger, Ahmet Zehir, Jill P. Mesirov

    Argitaratua 2017
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  3. 3
    HiPhase: jointly phasing small, structural, and tandem repeat variants from HiFi sequencing

    HiPhase: jointly phasing small, structural, and tandem repeat variants from HiFi sequencing nork James Holt, Christopher T. Saunders, William J. Rowell, Zev Kronenberg, Aaron M. Wenger, Michael A. Eberle

    Argitaratua 2024
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  4. 4
    Human Developmental Enhancers Conserved between Deuterostomes and Protostomes

    Human Developmental Enhancers Conserved between Deuterostomes and Protostomes nork Shoa L. Clarke, Julia E. VanderMeer, Aaron M. Wenger, Bruce T. Schaar, Nadav Ahituv, Gill Bejerano

    Argitaratua 2012
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  5. 5
    Computational methods to detect conserved non-genic elements in phylogenetically isolated genomes: application to zebrafish

    Computational methods to detect conserved non-genic elements in phylogenetically isolated genomes: application to zebrafish nork Michael Hiller, Saatvik Agarwal, James H. Notwell, Ravi Parikh, Harendra Guturu, Aaron M. Wenger, Gill Bejerano

    Argitaratua 2013
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  6. 6
    Phrank measures phenotype sets similarity to greatly improve Mendelian diagnostic disease prioritization

    Phrank measures phenotype sets similarity to greatly improve Mendelian diagnostic disease prioritization nork Karthik A. Jagadeesh, Johannes Birgmeier, Harendra Guturu, Cole A. Deisseroth, Aaron M. Wenger, Jonathan A. Bernstein, Gill Bejerano

    Argitaratua 2018
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  7. 7
    GREAT improves functional interpretation of cis-regulatory regions

    GREAT improves functional interpretation of cis-regulatory regions nork Cory Y. McLean, Dave Bristor, Michael Hiller, Shoa L. Clarke, Bruce T. Schaar, Craig B. Lowe, Aaron M. Wenger, Gill Bejerano

    Argitaratua 2010
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  8. 8
    Microbiota modulate transcription in the intestinal epithelium without remodeling the accessible chromatin landscape

    Microbiota modulate transcription in the intestinal epithelium without remodeling the accessible chromatin landscape nork J. Gray Camp, Christopher L. Frank, Colin R. Lickwar, Harendra Guturu, Tomas Rube, Aaron M. Wenger, Jenny Chen, Gill Bejerano, Gregory E. Crawford, John F. Rawls

    Argitaratua 2014
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  9. 9
    Approaches to long-read sequencing in a clinical setting to improve diagnostic rate

    Approaches to long-read sequencing in a clinical setting to improve diagnostic rate nork Erica Sanford Kobayashi, Serge Batalov, Aaron M. Wenger, Christine Lambert, Harsharan Dhillon, Richard Hall, Primo Baybayan, Yan Ding, Seema Rego, Kristen Wigby, Jennifer Friedman, Charlotte A. Hobbs, Matthew N. Bainbridge

    Argitaratua 2022
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  10. 10
    Long-read trio sequencing of individuals with unsolved intellectual disability

    Long-read trio sequencing of individuals with unsolved intellectual disability nork Marc Pauper, Erdi Küçük, Aaron M. Wenger, Shreyasee Chakraborty, Primo Baybayan, Michael Kwint, Bart van der Sanden, Marcel Nelen, Ronny Derks, Han G. Brunner, Alexander Hoischen, Lisenka E.L.M. Vissers, Christian Gilissen

    Argitaratua 2020
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  11. 11
    Human-specific loss of regulatory DNA and the evolution of human-specific traits

    Human-specific loss of regulatory DNA and the evolution of human-specific traits nork Cory Y. McLean, Philip L. Reno, Alex A. Pollen, Abraham I. Bassan, Terence D. Capellini, Catherine Guenther, Vahan B. Indjeian, Xinhong Lim, Douglas B. Menke, Bruce T. Schaar, Aaron M. Wenger, Gill Bejerano, David M. Kingsley

    Argitaratua 2011
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  12. 12
    AMELIE speeds Mendelian diagnosis by matching patient phenotype and genotype to primary literature

    AMELIE speeds Mendelian diagnosis by matching patient phenotype and genotype to primary literature nork Johannes Birgmeier, Maximilian Haeussler, Cole A. Deisseroth, Ethan Steinberg, Karthik A. Jagadeesh, Alexander Ratner, Harendra Guturu, Aaron M. Wenger, Mark Diekhans, Peter D. Stenson, D.N. Cooper, Christopher Ré, Alan H. Beggs, Jonathan A. Bernstein, Gill Bejerano

    Argitaratua 2020
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  13. 13
    Comprehensive de novo mutation discovery with HiFi long-read sequencing

    Comprehensive de novo mutation discovery with HiFi long-read sequencing nork Erdi Küçük, Bart van der Sanden, Luke O’Gorman, Michael Kwint, Ronny Derks, Aaron M. Wenger, Christine Lambert, Shreyasee Chakraborty, Primo Baybayan, William J. Rowell, Han G. Brunner, Lisenka E.L.M. Vissers, Alexander Hoischen, Christian Gilissen

    Argitaratua 2023
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  14. 14
    Coding exons function as tissue-specific enhancers of nearby genes

    Coding exons function as tissue-specific enhancers of nearby genes nork Ramon Y. Birnbaum, E. Josephine Clowney, Orly Agamy, Mee J. Kim, Jingjing Zhao, Takayuki Yamanaka, Zachary Pappalardo, Shoa L. Clarke, Aaron M. Wenger, Loan Nguyen, Fiorella Gurrieri, David B. Everman, Charles E. Schwartz, Ohad S. Birk, Gill Bejerano, Stavros Lomvardas, Nadav Ahituv

    Argitaratua 2012
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  15. 15
    Improved assembly and variant detection of a haploid human genome using single‐molecule, high‐fidelity long reads

    Improved assembly and variant detection of a haploid human genome using single‐molecule, high‐fidelity long reads nork Mitchell R. Vollger, Glennis A. Logsdon, Peter A. Audano, Arvis Sulovari, David Porubský, Paul Peluso, Aaron M. Wenger, Gregory T. Concepcion, Zev Kronenberg, Katherine M. Munson, Carl Baker, Ashley D. Sanders, Diana C.J. Spierings, Peter M. Lansdorp, Urvashi Surti, Michael W. Hunkapiller, Evan E. Eichler

    Argitaratua 2019
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  16. 16
    Long-read genome sequencing identifies causal structural variation in a Mendelian disease

    Long-read genome sequencing identifies causal structural variation in a Mendelian disease nork Jason D. Merker, Aaron M. Wenger, Tam P. Sneddon, Megan E. Grove, Zachary Zappala, Laure Frésard, Daryl Waggott, Sowmi Utiramerur, Yanli Hou, Kevin S. Smith, Stephen B. Montgomery, Matthew T. Wheeler, Jillian G. Buchan, Christine Lambert, Kevin Eng, Luke Hickey, Jonas Korlach, James M. Ford, Euan A. Ashley

    Argitaratua 2017
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  17. 17
    A multi-platform reference for somatic structural variation detection

    A multi-platform reference for somatic structural variation detection nork Jose Espejo Valle-Inclán, Nicolle Besselink, Ewart de Bruijn, Daniel Cameron, Jana Ebler, Joachim Kutzera, Stef van Lieshout, Tobias Marschall, Marcel Nelen, Peter Priestley, Ivo Renkens, Margaretha G.M. Roemer, Markus J. van Roosmalen, Aaron M. Wenger, Bauke Ylstra, Remond J.A. Fijneman, Wigard P. Kloosterman, Edwin Cuppen

    Argitaratua 2022
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  18. 18
    Resolving the unsolved: Comprehensive assessment of tandem repeats at scale

    Resolving the unsolved: Comprehensive assessment of tandem repeats at scale nork Egor Dolzhenko, Adam C. English, Harriet Dashnow, Guilherme De Sena Brandine, Tom Mokveld, William J. Rowell, Caitlin Karniski, Zev Kronenberg, Matt C. Danzi, Warren Cheung, Chengpeng Bi, Emily Farrow, Aaron M. Wenger, Verónica Martínez‐Cerdeño, Trevor Bartley, Peng Jin, David L. Nelson, Stephan Züchner, Tomi Pastinen, Aaron R. Quinlan, Fritz J. Sedlazeck, Michael A. Eberle

    Argitaratua 2023
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  19. 19
    Direct haplotype-resolved 5-base HiFi sequencing for genome-wide profiling of hypermethylation outliers in a rare disease cohort

    Direct haplotype-resolved 5-base HiFi sequencing for genome-wide profiling of hypermethylation outliers in a rare disease cohort nork Warren Cheung, Adam F. Johnson, William J. Rowell, Emily Farrow, Richard Hall, Ana S.A. Cohen, John C. Means, Tricia Zion, Daniel M. Portik, Christopher T. Saunders, Boryana Koseva, Chengpeng Bi, Tina K. Truong, Carl Schwendinger-Schreck, Byunggil Yoo, Jeffrey Johnston, Margaret Gibson, Gilad D. Evrony, William B. Rizzo, Isabelle Thiffault, Scott T. Younger, Tom Curran, Aaron M. Wenger, Elin Grundberg, Tomi Pastinen

    Argitaratua 2023
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  20. 20
    Highly-accurate long-read sequencing improves variant detection and assembly of a human genome

    Highly-accurate long-read sequencing improves variant detection and assembly of a human genome nork Aaron M. Wenger, Paul Peluso, William J. Rowell, Pi-Chuan Chang, Richard Hall, Gregory T. Concepcion, Jana Ebler, Arkarachai Fungtammasan, Alexey Kolesnikov, Nathan D. Olson, Armin Töpfer, Michael Alonge, Medhat Mahmoud, Y. Qian, Chen-Shan Chin, Adam M. Phillippy, Michael C. Schatz, Gene Myers, Mark A. DePristo, Jue Ruan, Tobias Marschall, Fritz J. Sedlazeck, Justin M. Zook, Heng Li, Sergey Koren, Andrew Carroll, David R. Rank, Michael W. Hunkapiller

    Argitaratua 2019
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