Resultats de la cerca - Jack A. Kosmicki

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  1. 1
    Testing the accuracy of an observation-based classifier for rapid detection of autism risk

    Testing the accuracy of an observation-based classifier for rapid detection of autism risk per Marlena Duda, Jack A. Kosmicki, Dennis P. Wall

    Publicat 2014
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  2. 2
    Searching for a minimal set of behaviors for autism detection through feature selection-based machine learning

    Searching for a minimal set of behaviors for autism detection through feature selection-based machine learning per Jack A. Kosmicki, Vanessa Sochat, Marlena Duda, Dennis P. Wall

    Publicat 2015
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  3. 3
    Discovery of rare variants for complex phenotypes

    Discovery of rare variants for complex phenotypes per Jack A. Kosmicki, Claire Churchhouse, Manuel A. Rivas, Benjamin M. Neale

    Publicat 2016
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  4. 4
    Use of machine learning to shorten observation-based screening and diagnosis of autism

    Use of machine learning to shorten observation-based screening and diagnosis of autism per Dennis P. Wall, Jack A. Kosmicki, Todd F. DeLuca, Elizabeth Harstad, Vincent A. Fusaro

    Publicat 2012
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  5. 5
    Autism spectrum disorder severity reflects the average contribution of de novo and familial influences

    Autism spectrum disorder severity reflects the average contribution of de novo and familial influences per Elise Robinson, Kaitlin E. Samocha, Jack A. Kosmicki, Lauren M. McGrath, Benjamin M. Neale, Roy H. Perlis, Mark J. Daly

    Publicat 2014
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  6. 6
    Regional missense constraint improves variant deleteriousness prediction

    Regional missense constraint improves variant deleteriousness prediction per Kaitlin E. Samocha, Jack A. Kosmicki, Konrad J. Karczewski, Anne O’Donnell‐Luria, Emma Pierce‐Hoffman, Daniel G. MacArthur, Benjamin M. Neale, Mark J. Daly

    Publicat 2017
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  7. 7
    Predicting the clinical impact of human mutation with deep neural networks

    Predicting the clinical impact of human mutation with deep neural networks per Laksshman Sundaram, Hong Gao, Samskruthi Reddy Padigepati, Jeremy F. McRae, Yanjun Li, Jack A. Kosmicki, Nondas Fritzilas, Jörg Hakenberg, Anindita Dutta, John Shon, Jinbo Xu, Serafim Batzoglou, Xiaolin Li, Kyle Kai‐How Farh

    Publicat 2018
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  8. 8
    Loss of heterozygosity of essential genes represents a widespread class of potential cancer vulnerabilities

    Loss of heterozygosity of essential genes represents a widespread class of potential cancer vulnerabilities per Caitlin A. Nichols, William J. Gibson, Meredith S. Brown, Jack A. Kosmicki, John Busanovich, Hope Y. Wei, Laura M. Urbanski, Naomi Curimjee, Ashton C. Berger, Galen F. Gao, Andrew D. Cherniack, Sirano Dhe‐Paganon, Brenton R. Paolella, Rameen Beroukhim

    Publicat 2020
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  9. 9
    Computationally efficient whole genome regression for quantitative and binary traits

    Computationally efficient whole genome regression for quantitative and binary traits per Joelle Mbatchou, Leland Barnard, Joshua Backman, Anthony Marcketta, Jack A. Kosmicki, Andrey Ziyatdinov, Christian Benner, Colm O’Dushlaine, Mathew Barber, Boris Boutkov, Lukas Habegger, Manuel A. R. Ferreira, Aris Baras, Jeffrey G. Reid, Gonçalo R. Abecasis, Evan K. Maxwell, Jonathan Marchini

    Publicat 2020
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  10. 10
    Computationally efficient whole-genome regression for quantitative and binary traits

    Computationally efficient whole-genome regression for quantitative and binary traits per Joelle Mbatchou, Leland Barnard, Joshua Backman, Anthony Marcketta, Jack A. Kosmicki, Andrey Ziyatdinov, Christian Benner, Colm O’Dushlaine, Mathew Barber, Boris Boutkov, Lukas Habegger, Manuel A. R. Ferreira, Aris Baras, Jeffrey G. Reid, Gonçalo R. Abecasis, Evan K. Maxwell, Jonathan Marchini

    Publicat 2021
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  11. 11
    Refining the role of de novo protein-truncating variants in neurodevelopmental disorders by using population reference samples

    Refining the role of de novo protein-truncating variants in neurodevelopmental disorders by using population reference samples per Jack A. Kosmicki, Kaitlin E. Samocha, Daniel P. Howrigan, Stephan Sanders, Kamil Slowikowski, Monkol Lek, Konrad J. Karczewski, David J. Cutler, Bernie Devlin, Kathryn Roeder, Joseph D. Buxbaum, Benjamin M. Neale, Daniel G. MacArthur, Dennis P. Wall, Elise Robinson, Mark J. Daly

    Publicat 2017
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  12. 12
    Predicting Splicing from Primary Sequence with Deep Learning

    Predicting Splicing from Primary Sequence with Deep Learning per Kishore Jaganathan, Sofia Kyriazopoulou Panagiotopoulou, Jeremy F. McRae, Siavash Fazel Darbandi, David A. Knowles, Yang Li, Jack A. Kosmicki, Juan David Arbelaez, Wenwu Cui, Grace Schwartz, Eric D. Chow, Efstathios Kanterakis, Hong Gao, Amirali Kia, Serafim Batzoglou, Stephan Sanders, Kyle Kai‐How Farh

    Publicat 2019
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  13. 13
    Paternal-age-related de novo mutations and risk for five disorders

    Paternal-age-related de novo mutations and risk for five disorders per Jacob Taylor, Jean-Christophe Debost, Sarah U. Morton, Emilie M. Wigdor, Henrike Heyne, Dennis Lal, Daniel P. Howrigan, Alex Bloemendal, Janne Tidselbak Larsen, Jack A. Kosmicki, Daniel J. Weiner, Jason Homsy, Jonathan G. Seidman, Christine E. Seidman, Esben Agerbo, John J. McGrath, Preben Bo Mortensen, Liselotte Petersen, Mark J. Daly, Elise Robinson

    Publicat 2019
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  14. 14
    Autism spectrum disorder and attention deficit hyperactivity disorder have a similar burden of rare protein-truncating variants

    Autism spectrum disorder and attention deficit hyperactivity disorder have a similar burden of rare protein-truncating variants per F. Kyle Satterstrom, Raymond K. Walters, Tarjinder Singh, Emilie M. Wigdor, Francesco Lescai, Ditte Demontis, Jack A. Kosmicki, Jakob Grove, Christine Stevens, Jonas Bybjerg‐Grauholm, Marie Bækvad‐Hansen, Duncan S. Palmer, Julian Maller, Merete Nordentoft, Ole Mors, Elise Robinson, David M. Hougaard, Thomas Werge, Preben Bo Mortensen, Benjamin M. Neale, Anders D. Børglum, Mark J. Daly

    Publicat 2019
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  15. 15
    Genetic risk for autism spectrum disorders and neuropsychiatric variation in the general population

    Genetic risk for autism spectrum disorders and neuropsychiatric variation in the general population per Elise Robinson, Beaté St Pourcain, Verneri Anttila, Jack A. Kosmicki, Brendan Bulik‐Sullivan, Jakob Grove, Julian Maller, Kaitlin E. Samocha, Stephan Sanders, Stephan Ripke, Joanna Martin, Mads V. Hollegaard, Thomas Werge, David M. Hougaard, Benjamin M. Neale, David M. Evans, David Skuse, Preben Bo Mortensen, Anders D. Børglum, Angelica Ronald, George Davey Smith, Mark J. Daly

    Publicat 2016
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  16. 16
    Polygenic transmission disequilibrium confirms that common and rare variation act additively to create risk for autism spectrum disorders

    Polygenic transmission disequilibrium confirms that common and rare variation act additively to create risk for autism spectrum disorders per Daniel J. Weiner, Emilie M. Wigdor, Stephan Ripke, Raymond K. Walters, Jack A. Kosmicki, Jakob Grove, Kaitlin E. Samocha, Jacqueline I. Goldstein, Aysu Okbay, Jonas Bybjerg‐Grauholm, Thomas Werge, David M. Hougaard, Jacob Taylor, David Skuse, Bernie Devlin, Richard Anney, Stephan Sanders, Somer Bishop, Preben Bo Mortensen, Anders D. Børglum, George Davey Smith, Mark J. Daly, Elise Robinson

    Publicat 2017
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  17. 17
    A framework for the interpretation of de novo mutation in human disease

    A framework for the interpretation of de novo mutation in human disease per Kaitlin E. Samocha, Elise Robinson, Stephan Sanders, Christine Stevens, Aniko Sabo, Lauren M. McGrath, Jack A. Kosmicki, Karola Rehnström, Swapan Mallick, Andrew Kirby, Dennis P. Wall, Daniel G. MacArthur, Stacey Gabriel, Mark A. DePristo, Shaun Purcell, Aarno Palotie, Eric Boerwinkle, Joseph D. Buxbaum, Edwin H. Cook, Richard A. Gibbs, Gerard D. Schellenberg, James S. Sutcliffe, Bernie Devlin, Kathryn Roeder, Benjamin M. Neale, Mark J. Daly

    Publicat 2014
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  18. 18
    Exome sequencing in schizophrenia-affected parent–offspring trios reveals risk conferred by protein-coding de novo mutations

    Exome sequencing in schizophrenia-affected parent–offspring trios reveals risk conferred by protein-coding de novo mutations per Daniel P. Howrigan, Samuel A. Rose, Kaitlin E. Samocha, Menachem Fromer, Felecia Cerrato, Wei J. Chen, Claire Churchhouse, Kimberly Chambert, Sharon D. Chandler, Mark J. Daly, Ashley Dumont, Giulio Genovese, Hai‐Gwo Hwu, Nan M. Laird, Jack A. Kosmicki, Jennifer L. Moran, Cheryl Roe, Tarjinder Singh, Shi‐Heng Wang, Stephen V. Faraone, Stephen J. Glatt, Steven A. McCarroll, Ming T. Tsuang, Benjamin M. Neale

    Publicat 2020
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  19. 19
    De novo variants in neurodevelopmental disorders with epilepsy

    De novo variants in neurodevelopmental disorders with epilepsy per Henrike Heyne, Tarjinder Singh, Hannah Stamberger, Rami Abou Jamra, Hande Çağlayan, Dana Craiu, Peter De Jonghe, Renzo Guerrini, Katherine L. Helbig, Bobby P.C. Koeleman, Jack A. Kosmicki, Tarja Linnankivi, Patrick May, Hiltrud Muhle, Rikke S. Møller, Bernd A. Neubauer, Aarno Palotie, Manuela Pendziwiat, Pasquale Striano, Sha Tang, Sitao Wu, Annapurna Poduri, Yvonne G. Weber, Sarah Weckhuysen, Sanjay M. Sisodiya, Mark J. Daly, Ingo Helbig, Dennis Lal, Johannes R. Lemke

    Publicat 2018
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  20. 20
    Gene family information facilitates variant interpretation and identification of disease-associated genes in neurodevelopmental disorders

    Gene family information facilitates variant interpretation and identification of disease-associated genes in neurodevelopmental disorders per Dennis Lal, Patrick May, Eduardo Pérez‐Palma, Kaitlin E. Samocha, Jack A. Kosmicki, Elise Robinson, Rikke S. Møller, Roland Krause, Peter Nürnberg, Sarah Weckhuysen, Peter De Jonghe, Renzo Guerrini, Lisa Marie Niestroj, Juliana Du, Carla Marini, James S. Ware, Mitja Kurki, Padhraig Gormley, Sha Tang, Sitao Wu, Saskia Biskup, Annapurna Poduri, Bernd A. Neubauer, Bobby P.C. Koeleman, Katherine L. Helbig, Yvonne G. Weber, Ingo Helbig, Amit R. Majithia, Aarno Palotie, Mark J. Daly

    Publicat 2020
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