High-coverage whole-genome sequencing of the expanded 1000 Genomes Project cohort including 602 trios
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PLATO software provides analytic framework for investigating complexity beyond genome-wide association studies
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Artificial Intelligence for Drug Toxicity and Safety
Basile, Anna O., Yahi, Alexandre, Tatonetti, Nicholas P.
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Phenome-Wide Association Study to Explore Relationships between Immune System Related Genetic Loci and Complex Traits and Diseases
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Published in PloS one (10.08.2016)
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Knowledge-driven binning approach for rare variant association analysis: application to neuroimaging biomarkers in Alzheimer's disease
Kim, Dokyoon, Basile, Anna O, Bang, Lisa, Horgusluoglu, Emrin, Lee, Seunggeun, Ritchie, Marylyn D, Saykin, Andrew J, Nho, Kwangsik
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High-coverage nanopore sequencing of samples from the 1000 Genomes Project to build a comprehensive catalog of human genetic variation
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Published in Genome research (20.11.2024)
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Published in Proceedings of the National Academy of Sciences - PNAS (28.06.2022)
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KNOWLEDGE DRIVEN BINNING AND PHEWAS ANALYSIS IN MARSHFIELD PERSONALIZED MEDICINE RESEARCH PROJECT USING BIOBIN
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Published in Pacific Symposium on Biocomputing. Pacific Symposium on Biocomputing (2016)
Published in Pacific Symposium on Biocomputing. Pacific Symposium on Biocomputing (2016)
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Ebert, Peter, Audano, Peter A, Zhu, Qihui, Rodriguez-Martin, Bernardo, Porubsky, David, Bonder, Marc Jan, Sulovari, Arvis, Ebler, Jana, Zhou, Weichen, Serra Mari, Rebecca, Yilmaz, Feyza, Zhao, Xuefang, Hsieh, PingHsun, Lee, Joyce, Kumar, Sushant, Lin, Jiadong, Rausch, Tobias, Chen, Yu, Ren, Jingwen, Santamarina, Martin, Höps, Wolfram, Ashraf, Hufsah, Chuang, Nelson T, Yang, Xiaofei, Munson, Katherine M, Lewis, Alexandra P, Fairley, Susan, Tallon, Luke J, Clarke, Wayne E, Basile, Anna O, Byrska-Bishop, Marta, Corvelo, André, Evani, Uday S, Lu, Tsung-Yu, Chaisson, Mark J P, Chen, Junjie, Li, Chong, Brand, Harrison, Wenger, Aaron M, Ghareghani, Maryam, Harvey, William T, Raeder, Benjamin, Hasenfeld, Patrick, Regier, Allison A, Abel, Haley J, Hall, Ira M, Flicek, Paul, Stegle, Oliver, Gerstein, Mark B, Tubio, Jose M C, Mu, Zepeng, Li, Yang I, Shi, Xinghua, Hastie, Alex R, Ye, Kai, Chong, Zechen, Sanders, Ashley D, Zody, Michael C, Talkowski, Michael E, Mills, Ryan E, Devine, Scott E, Lee, Charles, Korbel, Jan O, Marschall, Tobias, Eichler, Evan E
Published in Science (American Association for the Advancement of Science) (02.04.2021)
Published in Science (American Association for the Advancement of Science) (02.04.2021)
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High coverage whole genome sequencing of the expanded 1000 Genomes Project cohort including 602 trios
Byrska-Bishop, Marta, Evani, Uday S, Zhao, Xuefang, Basile, Anna O, Abel, Haley J, Regier, Allison A, Corvelo, André, Clarke, Wayne E, Musunuri, Rajeeva, Nagulapalli, Kshithija, Fairley, Susan, Runnels, Alexi, Winterkorn, Lara, Lowy-Gallego, Ernesto, The Human Genome Structural Variation Consortium, Flicek, Paul, Germer, Soren, Brand, Harrison, Hall, Ira M, Talkowski, Michael E, Narzisi, Giuseppe, Zody, Michael C
Published in bioRxiv (07.02.2021)
Published in bioRxiv (07.02.2021)
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A Polygenic and Phenotypic Risk Prediction for Polycystic Ovary Syndrome Evaluated by Phenome-Wide Association Studies
Joo, Yoonjung Yoonie, Actkins, Ky’Era, Pacheco, Jennifer A, Basile, Anna O, Carroll, Robert, Crosslin, David R, Day, Felix, Denny, Joshua C, Velez Edwards, Digna R, Hakonarson, Hakon, Harley, John B, Hebbring, Scott J, Ho, Kevin, Jarvik, Gail P, Jones, Michelle, Karaderi, Tugce, Mentch, Frank D, Meun, Cindy, Namjou, Bahram, Pendergrass, Sarah, Ritchie, Marylyn D, Stanaway, Ian B, Urbanek, Margrit, Walunas, Theresa L, Smith, Maureen, Chisholm, Rex L, Kho, Abel N, Davis, Lea, Hayes, M Geoffrey
Published in The journal of clinical endocrinology and metabolism (01.06.2020)
Published in The journal of clinical endocrinology and metabolism (01.06.2020)
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Nanopore sequencing of 1000 Genomes Project samples to build a comprehensive catalog of human genetic variation
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Published in medRxiv : the preprint server for health sciences (07.03.2024)
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Published in medRxiv : the preprint server for health sciences (07.03.2024)
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De novo assembly of 64 haplotype-resolved human genomes of diverse ancestry and integrated analysis of structural variation
Ebert, Peter, Audano, Peter A, Zhu, Qihui, Rodriguez-Martin, Bernardo, Porubsky, David, Bonder, Marc Jan, Sulovari, Arvis, Ebler, Jana, Zhou, Weichen, Rebecca Serra Mari, Yilmaz, Feyza, Zhao, Xuefang, Hsieh, Pinghsun, Lee, Joyce, Kumar, Sushant, Lin, Jiadong, Rausch, Tobias, Chen, Yu, Ren, Jingwen, Santamarina, Martin, Höps, Wolfram, Hufsah Ashraf, Chuang, Nelson T, Yang, Xiaofei, Munson, Katherine M, Lewis, Alexandra P, Fairley, Susan, Tallon, Luke J, Clarke, Wayne E, Basile, Anna O, Byrska-Bishop, Marta, Corvelo, André, Chaisson, Mark Jp, Chen, Junjie, Li, Chong, Brand, Harrison, Wenger, Aaron M, Ghareghani, Maryam, Harvey, William T, Raeder, Benjamin, Hasenfeld, Patrick, Regier, Allison, Haley, Abel, Hall, Ira, Flicek, Paul, Stegle, Oliver, Gerstein, Mark B, Jose Mc Tubio, Mu, Zepeng, Li, Yang I, Shi, Xinghua, Hastie, Alex R, Ye, Kai, Chong, Zechen, Sanders, Ashley D, Zody, Michael C, Talkowski, Michael E, Mills, Ryan E, Devine, Scott E, Lee, Charles, Korbel, Jan O, Marschall, Tobias, Eichler, Evan E
Published in bioRxiv (16.12.2020)
Published in bioRxiv (16.12.2020)
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A polygenic and phenotypic risk prediction for Polycystic Ovary Syndrome evaluated by Phenome-wide association studies
Joo, Yoonjung Yoonie, Actkins, Ky'era, Pacheco, Jennifer A, Basile, Anna O, Carroll, Robert, Crosslin, David R, Day, Felix, Denny, Joshua C, Velez Edwards, Digna R, Hakonarson, Hakon, Harley, John B, Hebbring, Scott J, Ho, Kevin, Jarvik, Gail P, Jones, Michelle, Karderi, Tugce, Mentch, Frank D, Meun, Cindy, Namjou, Bahram, Pendergrass, Sarah, Ritchie, Marylyn D, Stanaway, Ian B, Urbanek, Margrit, Walunas, Theresa L, Smith, Maureen, Chisholm, Rex L, International Pcos Consortium, Kho, Abel N, Davis, Lea, Hayes, M Geoffrey
Published in bioRxiv (24.07.2019)
Published in bioRxiv (24.07.2019)
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