Search Results - Kiran Garimella

Refine Results
  1. 1
    Integrating long-range connectivity information into de Bruijn graphs

    Integrating long-range connectivity information into de Bruijn graphs by Isaac Turner, Kiran Garimella, Zamin Iqbal, Gil McVean

    Published 2018
    Get full text Get full text
    Artigo
    Save to List
    Saved in:
  2. 2
    Cue: a deep-learning framework for structural variant discovery and genotyping

    Cue: a deep-learning framework for structural variant discovery and genotyping by Victoria Popic, Chris Rohlicek, Fabio Cunial, Iman Hajirasouliha, Dmitry Meleshko, Kiran Garimella, Anant Maheshwari

    Published 2023
    Get full text
    Artigo
    Save to List
    Saved in:
  3. 3
    Global survey on COVID-19 beliefs, behaviours and norms

    Global survey on COVID-19 beliefs, behaviours and norms by Avinash Collis, Kiran Garimella, Alex Moehring, M. Amin Rahimian, Stella Babalola, Nina Gobat, Dominick Shattuck, Jeni Stolow, Sinan Aral, Dean Eckles

    Published 2022
    Get full text
    Artigo
    Save to List
    Saved in:
  4. 4
    Whole-genome long-read sequencing downsampling and its effect on variant-calling precision and recall

    Whole-genome long-read sequencing downsampling and its effect on variant-calling precision and recall by William T. Harvey, Peter Ebert, Jana Ebler, Peter A. Audano, Katherine M. Munson, Kendra Hoekzema, David Porubský, Christine R. Beck, Tobias Marschall, Kiran Garimella, Evan E. Eichler

    Published 2023
    Get full text Get full text
    Artigo
    Save to List
    Saved in:
  5. 5
    Utility of long-read sequencing for All of Us

    Utility of long-read sequencing for All of Us by Medhat Mahmoud, Yongqing Huang, Kiran Garimella, Peter A. Audano, Wei Wan, Nripesh Prasad, Robert E. Handsaker, Steven C. Hall, A. Pionzio, Michael C. Schatz, Michael E. Talkowski, Evan E. Eichler, Shawn Levy, Fritz J. Sedlazeck

    Published 2023
    Get full text Get full text
    Pré-impressão
    Save to List
    Saved in:
  6. 6
    Utility of long-read sequencing for All of Us

    Utility of long-read sequencing for All of Us by Medhat Mahmoud, Yongqing Huang, Kiran Garimella, Peter A. Audano, Wei Wan, Nripesh Prasad, Robert E. Handsaker, Steven C. Hall, A. Pionzio, Michael C. Schatz, Michael E. Talkowski, Evan E. Eichler, Shawn Levy, Fritz J. Sedlazeck

    Published 2024
    Get full text Get full text
    Artigo
    Save to List
    Saved in:
  7. 7
    Exome sequencing reveals a novel mutation for autosomal recessive non-syndromic mental retardation in the TECR gene on chromosome 19p13

    Exome sequencing reveals a novel mutation for autosomal recessive non-syndromic mental retardation in the TECR gene on chromosome 19p13 by Minal Çalışkan, Jessica X. Chong, Lawrence H. Uricchio, Rebecca L. Anderson, Peixian Chen, Carrie Sougnez, Kiran Garimella, Stacey Gabriel, Mark A. DePristo, Khalid Shakir, Dietrich Matern, Soma Das, Darrel Waggoner, Dan L. Nicolae, Carole Ober

    Published 2011
    Get full text Get full text
    Artigo
    Save to List
    Saved in:
  8. 8
    From FastQ Data to High‐Confidence Variant Calls: The Genome Analysis Toolkit Best Practices Pipeline

    From FastQ Data to High‐Confidence Variant Calls: The Genome Analysis Toolkit Best Practices Pipeline by Géraldine A. Van der 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 Garimella, David Altshuler, Stacey Gabriel, Mark A. DePristo

    Published 2013
    Get full text
    Artigo
    Save to List
    Saved in:
  9. 9
    Integrative genotyping of cancer and immune phenotypes by long-read sequencing

    Integrative genotyping of cancer and immune phenotypes by long-read sequencing by Livius Penter, Mehdi Borji, Adi Nagler, Haoxiang Lyu, Wesley S Lu, Nicoletta Cieri, Katie Maurer, Giacomo Oliveira, Aziz Al’Khafaji, Kiran Garimella, Shuqiang Li, Donna Neuberg, Jerome Ritz, Robert J. Soiffer, Jacqueline S. Garcia, Kenneth J. Livak, Catherine J. Wu

    Published 2024
    Get full text Get full text
    Artigo
    Save to List
    Saved in:
  10. 10
    Variation in genome-wide mutation rates within and between human families

    Variation in genome-wide mutation rates within and between human families by Donald F. Conrad, Jonathan Keebler, Mark A. DePristo, Sarah Lindsay, Goo Jun, Ferrán Casals, Youssef Idaghdour, Christopher Hartl, Carlos Torroja, Kiran Garimella, Martine Zilversmit, Reed A. Cartwright, Guy A. Rouleau, Mark J. Daly, Eric A. Stone, Matthew E. Hurles, Philip Awadalla

    Published 2011
    Get full text
    Artigo
    Save to List
    Saved in:
  11. 11
    A framework for variation discovery and genotyping using next-generation DNA sequencing data

    A framework for variation discovery and genotyping using next-generation DNA sequencing data by Mark A. DePristo, Eric Banks, Ryan Poplin, Kiran Garimella, Jared Maguire, Christopher Hartl, Anthony Philippakis, Guillermo del Angel, Manuel A. Rivas, Matt Hanna, Aaron McKenna, Tim Fennell, Andrew Kernytsky, Andrey Sivachenko, Kristian Cibulskis, Stacey Gabriel, David Altshuler, Mark J. Daly

    Published 2011
    Get full text
    Artigo
    Save to List
    Saved in:
  12. 12
    Mitochondrial DNA variation across 56,434 individuals in gnomAD

    Mitochondrial DNA variation across 56,434 individuals in gnomAD by Kristen M. Laricchia, Nicole J. Lake, Nicholas A. Watts, Megan Shand, Andrea Haessly, Laura D. Gauthier, David Benjamin, Eric Banks, José Soto, Kiran Garimella, James Emery, Heidi L. Rehm, Daniel G. MacArthur, Grace Tiao, Monkol Lek, Vamsi K. Mootha, Sarah E. Calvo

    Published 2022
    Get full text Get full text
    Artigo
    Save to List
    Saved in:
  13. 13
    Exome sequencing and the genetic basis of complex traits

    Exome sequencing and the genetic basis of complex traits by Adam Kieżun, Kiran Garimella, Ron Do, Nathan O. Stitziel, Benjamin M. Neale, Paul J. McLaren, Namrata Gupta, Pamela Sklar, Patrick F. Sullivan, Jennifer L. Moran, Christina M. Hultman, Paul Lichtenstein, Patrik K. E. Magnusson, Thomas Lehner, Yin Yao Shugart, Alkes L. Price, Paul I. W. de Bakker, Shaun Purcell, Shamil Sunyaev

    Published 2012
    Get full text
    Artigo
    Save to List
    Saved in:
  14. 14
    Transcriptome variation in human tissues revealed by long-read sequencing

    Transcriptome variation in human tissues revealed by long-read sequencing by Dafni A. Glinos, Garrett Garborcauskas, Paul Hoffman, Nava Ehsan, Lihua Jiang, Alper Gokden, Xiaoguang Dai, François Aguet, Kathleen L. Brown, Kiran Garimella, Tera Bowers, Maura Costello, Kristin Ardlie, Ruiqi Jian, Nathan R. Tucker, Patrick T. Ellinor, Eoghan Harrington, Hua Tang, M Snyder, Sissel Juul, Pejman Mohammadi, Daniel G. MacArthur, Tuuli Lappalainen, Beryl B. Cummings

    Published 2022
    Get full text
    Artigo
    Save to List
    Saved in:
  15. 15
    Exome Sequencing,<i>ANGPTL3</i>Mutations, and Familial Combined Hypolipidemia

    Exome Sequencing,<i>ANGPTL3</i>Mutations, and Familial Combined Hypolipidemia by Kiran Musunuru, James P. Pirruccello, Ron Do, Gina M. Peloso, Candace Guiducci, Carrie Sougnez, Kiran Garimella, Sheila Fisher, Justin Abreu, Andrew J. Barry, Tim Fennell, Eric Banks, Lauren Ambrogio, Kristian Cibulskis, Andrew Kernytsky, Elena González, Nicholas Rudzicz, James C. Engert, Mark A. DePristo, Mark J. Daly, Jonathan C. Cohen, Helen H. Hobbs, David Altshuler, Gustav Schonfeld, Stacey Gabriel, Pin Yue, Sekar Kathiresan

    Published 2010
    Get full text Get full text
    Artigo
    Save to List
    Saved in:
  16. 16
    Extremely low-coverage sequencing and imputation increases power for genome-wide association studies

    Extremely low-coverage sequencing and imputation increases power for genome-wide association studies by Bogdan Paşaniuc, Nadin Rohland, Paul J. McLaren, Kiran Garimella, Noah Zaitlen, Heng Li, Namrata Gupta, Benjamin M. Neale, Mark J. Daly, Pamela Sklar, Patrick F. Sullivan, Sarah E. Bergen, Jennifer L. Moran, Christina M. Hultman, Paul Lichtenstein, Patrik K. E. Magnusson, Shaun Purcell, David W. Haas, Liming Liang, Shamil R. Sunyaev, Hon‐Cheong So, Paul I. W. de Bakker, David Reich, Alkes L. Price

    Published 2012
    Get full text
    Artigo
    Save to List
    Saved in:
  17. 17
    Exome Sequencing Can Improve Diagnosis and Alter Patient Management

    Exome Sequencing Can Improve Diagnosis and Alter Patient Management by Tracy Dixon‐Salazar, Jennifer L. Silhavy, Nitin Udpa, Jana Schroth, Stephanie Bielas, Ashleigh E. Schaffer, Jesus Olvera, Vineet Bafna, Maha S. Zaki, Ghada M. H. Abdel‐Salam, Lobna Mansour, Laila Selim, Sawsan Abdel-Hadi, Naïma Marzouki, Tawfeg Ben‐Omran, Nouriya A. Al-Saana, F.M. Sonmez, Figen Celep, Matloob Azam, Kiley J. Hill, Adrienne Collazo, Ali G. Fenstermaker, Gaia Novarino, Naiara Akizu, Kiran Garimella, Carrie Sougnez, Carsten Russ, Stacey Gabriel, Joseph G. Gleeson

    Published 2012
    Get full text
    Artigo
    Save to List
    Saved in:
  18. 18
    Repeat expansions confer WRN dependence in microsatellite-unstable cancers

    Repeat expansions confer WRN dependence in microsatellite-unstable cancers by Niek van Wietmarschen, Sriram Sridharan, William J. Nathan, Anthony Tubbs, Edmond M. Chan, Elsa Callén, Wei Wu, Frida Belinky, Veenu Tripathi, Nancy Wong, Kyla Foster, Javad Noorbakhsh, Kiran Garimella, Abimael Cruz-Migoni, Joshua A. Sommers, Yongqing Huang, Ashir A. Borah, Jonathan T. Smith, Jérémie Kalfon, Nikolas Kesten, Kasper Fugger, Robert L. Walker, Egor Dolzhenko, Michael A. Eberle, Bruce E. Hayward, Karen Usdin, Catherine H. Freudenreich, Robert Brosh, Stephen C. West, Peter J. McHugh, Paul S. Meltzer, Adam J. Bass, André Nussenzweig

    Published 2020
    Get full text
    Artigo
    Save to List
    Saved in:
  19. 19
    Analysis of Rare, Exonic Variation amongst Subjects with Autism Spectrum Disorders and Population Controls

    Analysis of Rare, Exonic Variation amongst Subjects with Autism Spectrum Disorders and Population Controls by Li Liu, Aniko Sabo, Benjamin M. Neale, Uma Nagaswamy, Christine Stevens, Elaine T. Lim, Corneliu Bodea, Donna M. Muzny, Jeffrey G. Reid, Eric Banks, Hilary Coon, Mark A. DePristo, Huyen Dinh, Tim Fennel, Jason Flannick, Stacey Gabriel, Kiran Garimella, Shannon Gross, Alicia Hawes, Lora Lewis, Vladimir Makarov, Jared Maguire, Irene Newsham, Ryan Poplin, Stephan Ripke, Khalid Shakir, Kaitlin E. Samocha, Yuanqing Wu, Eric Boerwinkle, Joseph D. Buxbaum, Edwin H. Cook, Bernie Devlin, Gerard D. Schellenberg, James S. Sutcliffe, Mark J. Daly, Richard A. Gibbs, Kathryn Roeder

    Published 2013
    Get full text Get full text
    Artigo
    Save to List
    Saved in:
  20. 20
    A polygenic burden of rare disruptive mutations in schizophrenia

    A polygenic burden of rare disruptive mutations in schizophrenia by Shaun Purcell, Jennifer L. Moran, Menachem Fromer, Douglas M. Ruderfer, Nadia Solovieff, Panos Roussos, Colm Ó'Dúshláine, Kimberly Chambert, Sarah E. Bergen, Anna K. Kähler, Laramie E. Duncan, Eli Stahl, Giulio Genovese, Esperanza Fernández, Mark O. Collins, Noboru H. Komiyama, Jyoti S. Choudhary, Patrik K. E. Magnusson, Eric Banks, Khalid Shakir, Kiran Garimella, Tim Fennell, Mark A. DePristo, Seth G. N. Grant, Stephen J. Haggarty, Stacey Gabriel, Edward M. Scolnick, Eric S. Lander, Christina M. Hultman, Patrick F. Sullivan, Steven A. McCarroll, Pamela Sklar

    Published 2014
    Get full text
    Artigo
    Save to List
    Saved in:

Search Tools: