Search Results - Avinash Ramu

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  1. 1
    DeNovoGear: de novo indel and point mutation discovery and phasing

    DeNovoGear: de novo indel and point mutation discovery and phasing by Avinash Ramu, Michiel J. Noordam, Rachel S. Schwartz, Arthur Wüster, Matthew E. Hurles, Reed A. Cartwright, Donald F. Conrad

    Published 2013
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  2. 2
    Active learning of enhancers and silencers in the developing neural retina

    Active learning of enhancers and silencers in the developing neural retina by Ryan Z. Friedman, Avinash Ramu, Sara Lichtarge, Yawei Wu, Lloyd D. Tripp, Delina Y. Lyon, Connie A. Myers, David M. Granas, Maria Gause, Joseph C. Corbo, Barak A. Cohen, Michael A. White

    Published 2025
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  3. 3
    The origins and functional effects of postzygotic mutations throughout the human life span

    The origins and functional effects of postzygotic mutations throughout the human life span by Nicole B. Rockweiler, Avinash Ramu, Liina Nagirnaja, Winghing Wong, Michiel J. Noordam, Casey W. Drubin, Ni Huang, Brian Miller, Ellen Todres, Katinka A. Vigh‐Conrad, Antonino Zito, Kerrin S. Small, Kristin Ardlie, Barak A. Cohen, Donald F. Conrad

    Published 2023
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  4. 4
    A Phase I Trial of BKM120 (Buparlisib) in Combination with Fulvestrant in Postmenopausal Women with Estrogen Receptor–Positive Metastatic Breast Cancer

    A Phase I Trial of BKM120 (Buparlisib) in Combination with Fulvestrant in Postmenopausal Women with Estrogen Receptor–Positive Metastatic Breast Cancer by X. Cynthia, Jingqin Luo, Michael Naughton, Foluso O. Ademuyiwa, Rama Suresh, Malachi Griffith, Obi L. Griffith, Zachary L. Skidmore, Nicholas C. Spies, Avinash Ramu, Lee Trani, Timothy Pluard, Gayathri Nagaraj, Shana Thomas, Zhanfang Guo, Jeremy Hoog, Jing Han, Elaine R. Mardis, Craig Lockhart, Matthew J. Ellis

    Published 2015
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  5. 5
    Convergent loss of PTEN leads to clinical resistance to a PI(3)Kα inhibitor

    Convergent loss of PTEN leads to clinical resistance to a PI(3)Kα inhibitor by Dejan Juric, Pau Castel, Malachi Griffith, Obi L. Griffith, Helen Won, Haley Ellis, Saya H. Ebbesen, Benjamin J. Ainscough, Avinash Ramu, Gopa Iyer, Ronak Shah, Tiffany G. Huynh, Mari Mino‐Kenudson, Dennis C. Sgroi, Steven J. Isakoff, Ashraf Thabet, Leila Elamine, David B. Solit, Scott W. Lowe, Cornelia Quadt, Malte Peters, Adnan Derti, Robert Schegel, Alan Huang, Elaine R. Mardis, Michael F. Berger, José Baselga, Maurizio Scaltriti

    Published 2014
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  6. 6
    RegTools: Integrated analysis of genomic and transcriptomic data for the discovery of splice-associated variants in cancer

    RegTools: Integrated analysis of genomic and transcriptomic data for the discovery of splice-associated variants in cancer by Kelsy C. Cotto, Yang-Yang Feng, Avinash Ramu, Megan M. Richters, Sharon L. Freshour, Zachary L. Skidmore, Huiming Xia, Joshua F. McMichael, Jason Kunisaki, Katie M. Campbell, Timothy Hung-Po Chen, Emily B. Rozycki, Douglas R. Adkins, Siddhartha Devarakonda, Sumithra Sankararaman, Yiing Lin, William C. Chapman, Christopher A. Maher, Vivek Arora, Gavin P. Dunn, Ravindra Uppaluri, Ramaswamy Govindan, Obi L. Griffith, Malachi Griffith

    Published 2018
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  7. 7
    Integrated analysis of genomic and transcriptomic data for the discovery of splice-associated variants in cancer

    Integrated analysis of genomic and transcriptomic data for the discovery of splice-associated variants in cancer by Kelsy C. Cotto, Yang-Yang Feng, Avinash Ramu, Megan M. Richters, Sharon L. Freshour, Zachary L. Skidmore, Huiming Xia, Joshua F. McMichael, Jason Kunisaki, Katie M. Campbell, Timothy Hung-Po Chen, Emily B. Rozycki, Douglas R. Adkins, Siddhartha Devarakonda, Sumithra Sankararaman, Yiing Lin, William C. Chapman, Christopher A. Maher, Vivek Arora, Gavin P. Dunn, Ravindra Uppaluri, Ramaswamy Govindan, Obi L. Griffith, Malachi Griffith

    Published 2023
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  8. 8
    Optimizing Cancer Genome Sequencing and Analysis

    Optimizing Cancer Genome Sequencing and Analysis by Malachi Griffith, Christopher A. Miller, Obi L. Griffith, Kilannin Krysiak, Zachary L. Skidmore, Avinash Ramu, Jason Walker, Ha X. Dang, Lee Trani, David E. Larson, Ryan Demeter, Michael C. Wendl, Joshua F. McMichael, Rachel Austin, Vincent Magrini, Sean McGrath, Amy Ly, Shashikant Kulkarni, Matthew G. Cordes, Catrina C. Fronick, Robert S. Fulton, Christopher A. Maher, Li Ding, Jeffery M. Klco, Elaine R. Mardis, Timothy J. Ley, Richard K. Wilson

    Published 2015
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  9. 9
    Human Spermatogenic Failure Purges Deleterious Mutation Load from the Autosomes and Both Sex Chromosomes, including the Gene DMRT1

    Human Spermatogenic Failure Purges Deleterious Mutation Load from the Autosomes and Both Sex Chromosomes, including the Gene DMRT1 by Alexandra M. Lopes, Kenneth I. Aston, Emma E. Thompson, Filipa Carvalho, João Gonçalves, Ni Huang, Rune Matthiesen, Michiel J. Noordam, Inés Quintela, Avinash Ramu, Catarina M. Seabra, Amy B. Wilfert, Juncheng Dai, Jonathan M. Downie, Susana Fernandes, Xuejiang Guo, Jiahao Sha, António Amorim, Alberto Barros, Ángel Carracedo, Zhibin Hu, Matthew E. Hurles, Sergey I. Moskovtsev, Carole Ober, Darius A. Paduch, Joshua D. Schiffman, Peter N. Schlegel, Mário Sousa, Douglas T. Carrell, Donald F. Conrad

    Published 2013
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  10. 10
    Dynamic landscape and regulation of RNA editing in mammals

    Dynamic landscape and regulation of RNA editing in mammals by Meng How Tan, Qin Li, Raghuvaran Shanmugam, Robert Piskol, Jennefer N. Kohler, Amy N. Young, Kaiwen Ivy Liu, Rui Zhang, Gokul Ramaswami, Kentaro Ariyoshi, Ankita Gupte, Liam P. Keegan, Cyril X. George, Avinash Ramu, Ni Huang, Elizabeth A. Pollina, Dena S. Leeman, Alessandra Rustighi, Y. P. Sharon Goh, Ajay Chawla, Giannino Del Sal, Gary Peltz, Anne Brunet, Donald F. Conrad, Charles E. Samuel, Mary A. O’Connell, Carl R. Walkley, Kazuko Nishikura, Jin Billy Li

    Published 2017
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  11. 11
    Recurrent WNT pathway alterations are frequent in relapsed small cell lung cancer

    Recurrent WNT pathway alterations are frequent in relapsed small cell lung cancer by Alex H. Wagner, Siddhartha Devarakonda, Zachary L. Skidmore, Kilannin Krysiak, Avinash Ramu, Lee Trani, Jason Kunisaki, Ashiq Masood, Saiama N. Waqar, Nicholas C. Spies, Daniel Morgensztern, Jason Waligorski, Jennifer Ponce, Robert S. Fulton, Leonard B. Maggi, Jason D. Weber, Mark A. Watson, Christopher J. O’Conor, Jon H. Ritter, Rachelle R. Olsen, Haixia Cheng, Anandaroop Mukhopadhyay, İsmail Can, Melissa H. Cessna, Trudy G. Oliver, Elaine R. Mardis, Richard K. Wilson, Malachi Griffith, Obi L. Griffith, Ramaswamy Govindan

    Published 2018
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  12. 12
    Comprehensive genomic analysis reveals FLT3 activation and a therapeutic strategy for a patient with relapsed adult B-lymphoblastic leukemia

    Comprehensive genomic analysis reveals FLT3 activation and a therapeutic strategy for a patient with relapsed adult B-lymphoblastic leukemia by Malachi Griffith, Obi L. Griffith, Kilannin Krysiak, Zachary L. Skidmore, Matthew Christopher, Jeffery M. Klco, Avinash Ramu, Tamara Lamprecht, Alex H. Wagner, Katie M. Campbell, Robert Lesurf, Jasreet Hundal, Jin Zhang, Nicholas C. Spies, Benjamin J. Ainscough, David E. Larson, Sharon E. Heath, Catrina C. Fronick, Shelly O’Laughlin, Robert S. Fulton, Vincent Magrini, Sean McGrath, Scott M. Smith, Christopher A. Miller, Christopher A. Maher, Jacqueline E. Payton, Jason Walker, James M. Eldred, Matthew J. Walter, Daniel C. Link, Timothy A. Graubert, Peter Westervelt, Shashikant Kulkarni, John F. DiPersio, Elaine R. Mardis, Richard K. Wilson, Timothy J. Ley

    Published 2016
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  13. 13
    CIViC is a community knowledgebase for expert crowdsourcing the clinical interpretation of variants in cancer

    CIViC is a community knowledgebase for expert crowdsourcing the clinical interpretation of variants in cancer by Malachi Griffith, Nicholas C. Spies, Kilannin Krysiak, Joshua F. McMichael, Adam Coffman, Arpad Danos, Benjamin J. Ainscough, Cody A. Ramirez, Damian Rieke, Lynzey Kujan, Erica K. Barnell, Alex H. Wagner, Zachary L. Skidmore, Amber Z. Wollam, Connor J. Liu, Martin Jones, Rachel L Bilski, Robert Lesurf, Yan-Yang Feng, Nakul M. Shah, Melika Bonakdar, Lee Trani, Matthew K. Matlock, Avinash Ramu, Katie M. Campbell, Gregory C. Spies, Aaron Graubert, Karthik Gangavarapu, James M. Eldred, David E. Larson, Jason Walker, Benjamin M. Good, Chunlei Wu, Andrew I. Su, Rodrigo Dienstmann, Adam A. Margolin, David Tamborero, Núria López-Bigas, Steven J.M. Jones, Ron Bose, David H. Spencer, Lukas D. Wartman, Richard K. Wilson, Elaine R. Mardis, Obi L. Griffith

    Published 2017
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  14. 14
    The genetic architecture of sporadic and multiple consecutive miscarriage

    The genetic architecture of sporadic and multiple consecutive miscarriage by Triin Laisk, Ana Luiza G. Soares, Teresa Ferreira, Jodie N. Painter, Jenny C. Censin, Samantha Laber, Jonas Bacelis, Chia‐Yen Chen, Maarja Lepamets, Kuang Lin, Siyang Liu, Iona Y. Millwood, Avinash Ramu, Jennifer H. Southcombe, Marianne Andersen, Ling Yang, Christian M. Becker, Anders D. Børglum, Scott D. Gordon, Jonas Bybjerg‐Grauholm, Øyvind Helgeland, David M. Hougaard, Xin Jin, Stefan Johansson, Julius Juodakis, Christiana Kartsonaki, Viktorija Kukushkina, Penelope A. Lind, Andres Metspalu, Grant W. Montgomery, Andrew P. Morris, Ole Mors, Preben Bo Mortensen, Pål R. Njølstad, Merete Nordentoft, Dale R. Nyholt, Margaret Lippincott, Stephanie B. Seminara, Andres Salumets, Harold Snieder, Krina T. Zondervan, Thomas Werge, Zhengming Chen, Donald F. Conrad, Bo Jacobsson, Liming Li, Nicholas G. Martin, Benjamin M. Neale, Rasmus Nielsen, Robin Walters, Ingrid Granne, Sarah E. Medland, Reedik Mägi, Debbie A. Lawlor, Cecilia M. Lindgren

    Published 2020
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  15. 15
    Genome Modeling System: A Knowledge Management Platform for Genomics

    Genome Modeling System: A Knowledge Management Platform for Genomics by Malachi Griffith, Obi L. Griffith, Scott M. Smith, Avinash Ramu, Matthew B. Callaway, Anthony M. Brummett, Michael J. Kiwala, Adam Coffman, Allison Regier, Ben J. Oberkfell, Gabriel E. Sanderson, Thomas P. Mooney, Nathaniel G. Nutter, Edward A. Belter, Feiyu Du, Robert L. Long, Travis E. Abbott, Ian Ferguson, David Morton, Mark M. Burnett, James V. Weible, Joshua B. Peck, Adam F. Dukes, Joshua F. McMichael, Justin T. Lolofie, Brian R. Derickson, Jasreet Hundal, Zachary L. Skidmore, Benjamin J. Ainscough, Nathan D. Dees, William Schierding, Cyriac Kandoth, Kyung H. Kim, Charles Lu, Christopher Harris, Nicole Maher, Christopher A. Maher, Vincent Magrini, Benjamin Abbott, Ken Chen, Eric M. Clark, Indraniel Das, Xian Fan, Amy Hawkins, Todd G. Hepler, Todd Wylie, Shawn Leonard, W.E. Schroeder, Xiaoqi Shi, Lynn K. Carmichael, Matthew R. Weil, Richard W. Wohlstadter, Gary Stiehr, Michael D. McLellan, Craig Pohl, Christopher A. Miller, Daniel C. Koboldt, Jason Walker, James M. Eldred, David E. Larson, David J. Dooling, Li Ding, Elaine R. Mardis, Richard K. Wilson

    Published 2015
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