Search Results - "YOON, Seungtai"

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    Sensitive and accurate detection of copy number variants using read depth of coverage by Yoon, Seungtai, Xuan, Zhenyu, Makarov, Vladimir, Ye, Kenny, Sebat, Jonathan

    Published in Genome Research (01-09-2009)
    “…Methods for the direct detection of copy number variation (CNV) genome-wide have become effective instruments for identifying genetic risk factors for disease…”
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    Rare De Novo and Transmitted Copy-Number Variation in Autistic Spectrum Disorders by Levy, Dan, Ronemus, Michael, Yamrom, Boris, Lee, Yoon-ha, Leotta, Anthony, Kendall, Jude, Marks, Steven, Lakshmi, B., Pai, Deepa, Ye, Kenny, Buja, Andreas, Krieger, Abba, Yoon, Seungtai, Troge, Jennifer, Rodgers, Linda, Iossifov, Ivan, Wigler, Michael

    Published in Neuron (Cambridge, Mass.) (09-06-2011)
    “…To explore the genetic contribution to autistic spectrum disorders (ASDs), we have studied genomic copy-number variation in a large cohort of families with a…”
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    IPCC7: Post-Quantum Encryption Scheme Based on a Perfect Dominating Set in 3-Regular Graph by Ryu, Jieun, Kim, Yongbhin, Yoon, Seungtai, Kang, Ju-Sung, Yeom, Yongjin

    Published in IEEE access (01-01-2024)
    “…Post-quantum cryptography (PQC) has been actively explored to meet the requirements arising with the rapid development of quantum computers. The National…”
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    Rates of contributory de novo mutation in high and low-risk autism families by Yoon, Seungtai, Munoz, Adriana, Yamrom, Boris, Lee, Yoon-ha, Andrews, Peter, Marks, Steven, Wang, Zihua, Reeves, Catherine, Winterkorn, Lara, Krieger, Abba M., Buja, Andreas, Pradhan, Kith, Ronemus, Michael, Baldwin, Kristin K., Levy, Dan, Wigler, Michael, Iossifov, Ivan

    Published in Communications biology (01-09-2021)
    “…Autism arises in high and low-risk families. De novo mutation contributes to autism incidence in low-risk families as there is a higher incidence in the…”
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    Identification of genes and variants associated with quantitative traits using Bayesian factor screening by Pradhan, Kith, Yoon, Seungtai Chris, Wang, Tao, Ye, Kenny

    Published in BMC proceedings (29-11-2011)
    “…We propose a factor-screening method based on a Bayesian model selection framework and apply it to Genetic Analysis Workshop 17 simulated data with unrelated…”
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    Detecting common copy number variants in high-throughput sequencing data by using JointSLM algorithm by Magi, Alberto, Benelli, Matteo, Yoon, Seungtai, Roviello, Franco, Torricelli, Francesca

    Published in Nucleic acids research (01-05-2011)
    “…The discovery of genomic structural variants (SVs), such as copy number variants (CNVs), is essential to understand genetic variation of human populations and…”
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    De novo mutations in schizophrenia implicate chromatin remodeling and support a genetic overlap with autism and intellectual disability by McCarthy, S E, Gillis, J, Kramer, M, Lihm, J, Yoon, S, Berstein, Y, Mistry, M, Pavlidis, P, Solomon, R, Ghiban, E, Antoniou, E, Kelleher, E, O'Brien, C, Donohoe, G, Gill, M, Morris, D W, McCombie, W R, Corvin, A

    Published in Molecular psychiatry (01-06-2014)
    “…Schizophrenia is a serious psychiatric disorder with a broadly undiscovered genetic etiology. Recent studies of de novo mutations (DNMs) in schizophrenia and…”
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    A tumour suppressor network relying on the polyamine–hypusine axis by Scuoppo, Claudio, Miething, Cornelius, Lindqvist, Lisa, Reyes, José, Ruse, Cristian, Appelmann, Iris, Yoon, Seungtai, Krasnitz, Alexander, Teruya-Feldstein, Julie, Pappin, Darryl, Pelletier, Jerry, Lowe, Scott W.

    Published in Nature (London) (12-07-2012)
    “…AMD1 and eIF5A are identified as two genes involved in the polyamine–hypusine pathway, a new tumour suppressor network regulating apoptosis. A two-hit tumour…”
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    AnnTools: a comprehensive and versatile annotation toolkit for genomic variants by MAKAROV, Vladimir, O'GRADY, Tina, GUIQING CAI, LIHM, Jayon, BUXBAUM, Joseph D, YOON, Seungtai

    Published in Bioinformatics (Oxford, England) (01-03-2012)
    “…AnnTools is a versatile bioinformatics application designed for comprehensive annotation of a full spectrum of human genome variation: novel and known…”
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    Sharing parental genomes by siblings concordant or discordant for autism by Wroten, Mathew, Yoon, Seungtai, Andrews, Peter, Yamrom, Boris, Ronemus, Michael, Buja, Andreas, Krieger, Abba M., Levy, Dan, Ye, Kenny, Wigler, Michael, Iossifov, Ivan

    Published in Cell genomics (14-06-2023)
    “…Studying thousands of families, we find siblings concordant for autism share more of their parental genomes than expected by chance, and discordant siblings…”
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    Whole exome sequencing reveals minimal differences between cell line and whole blood derived DNA by Schafer, Chad M., Campbell, Nicholas G., Cai, Guiqing, Yu, Fei, Makarov, Vladimir, Yoon, Seungtai, Daly, Mark J., Gibbs, Richard A., Schellenberg, Gerard D., Devlin, Bernie, Sutcliffe, James S., Buxbaum, Joseph D., Roeder, Kathryn

    Published in Genomics (San Diego, Calif.) (01-10-2013)
    “…Two common sources of DNA for whole exome sequencing (WES) are whole blood (WB) and immortalized lymphoblastoid cell line (LCL). However, it is possible that…”
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    Exome sequencing identifies GCDH (glutaryl-CoA dehydrogenase) mutations as a cause of a progressive form of early-onset generalized dystonia by Marti-Masso, Jose Felix, Ruiz-Martínez, Javier, Makarov, Vladimir, de Munain, Adolfo López, Gorostidi, Ana, Bergareche, Alberto, Yoon, Seungtai, Buxbaum, Joseph D., Paisán-Ruiz, Coro

    Published in Human genetics (01-03-2012)
    “…Dystonias are a clinically and genetically heterogeneous group of movement disorders characterized by involuntary, sustained muscular contractions affecting…”
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    Finding Disease Variants in Mendelian Disorders By Using Sequence Data: Methods and Applications by Ionita-Laza, Iuliana, Makarov, Vlad, Yoon, Seungtai, Raby, Benjamin, Buxbaum, Joseph, Nicolae, Dan L., Lin, Xihong

    Published in American journal of human genetics (09-12-2011)
    “…Many sequencing studies are now underway to identify the genetic causes for both Mendelian and complex traits. Via exome-sequencing, genes harboring variants…”
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