Výsledky vyhledávání - Sulovari, Arvis

GACT: a Genome build and Allele definition Conversion Tool for SNP imputation and meta-analysis in genetic association studies Autor Sulovari, Arvis, Li, Dawei

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Characterization of Hepatitis B Virus Integrations Identified in Hepatocellular Carcinoma Genomes Autor Mathkar, Pranav P., Chen, Xun, Sulovari, Arvis, Li, Dawei

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Association of Gamma-Aminobutyric Acid A Receptor α2 Gene (GABRA2) with Alcohol Use Disorder Autor Li, Dawei, Sulovari, Arvis, Cheng, Chao, Zhao, Hongyu, Kranzler, Henry R, Gelernter, Joel

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Characterizing nucleotide variation and expansion dynamics in human-specific variable number tandem repeats Autor Course, Meredith M., Sulovari, Arvis, Gudsnuk, Kathryn, Eichler, Evan E., Valdmanis, Paul N.

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Recurrent de novo mutations in neurodevelopmental disorders: properties and clinical implications Autor Wilfert, Amy B., Sulovari, Arvis, Turner, Tychele N., Coe, Bradley P., Eichler, Evan E.

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A virome-wide clonal integration analysis platform for discovering cancer viral etiology Autor Chen, Xun, Kost, Jason, Sulovari, Arvis, Wong, Nathalie, Liang, Winnie S., Cao, Jian, Li, Dawei

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PARADOXICAL ROLES OF DUAL OXIDASES IN CANCER BIOLOGY Autor Little, Andrew C., Sulovari, Arvis, Danyal, Karamatullah, Heppner, David E., Seward, David J., van der Vliet, Albert

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Quantitative assessment reveals the dominance of duplicated sequences in germline-derived extrachromosomal circular DNA Autor Mouakkad-Montoya, Lila, Murata, Michael M., Sulovari, Arvis, Suzuki, Ryusuke, Osia, Beth, Malkova, Anna, Katsumata, Makoto, Giuliano, Armando E., Eichler, Evan E., Tanaka, Hisashi

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Human-specific tandem repeat expansion and differential gene expression during primate evolution Autor Sulovari, Arvis, Li, Ruiyang, Audano, Peter A., Porubsky, David, Vollger, Mitchell R., Logsdon, Glennis A., Warren, Wesley C., Pollen, Alex A., Chaisson, Mark J. P., Eichler, Evan E.

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Neurodevelopmental disease genes implicated by de novo mutation and copy number variation morbidity Autor Coe, Bradley P., Stessman, Holly A.F., Sulovari, Arvis, Geisheker, Madeleine R., Bakken, Trygve E., Lake, Allison M., Dougherty, Joseph D., Lein, Ed S., Hormozdiari, Fereydoun, Bernier, Raphael A., Eichler, Evan E.

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Recurrent inversion toggling and great ape genome evolution Autor Porubsky, David, Sanders, Ashley D., Höps, Wolfram, Hsieh, PingHsun, Sulovari, Arvis, Li, Ruiyang, Mercuri, Ludovica, Sorensen, Melanie, Murali, Shwetha C., Gordon, David, Cantsilieris, Stuart, Pollen, Alex A., Ventura, Mario, Antonacci, Francesca, Marschall, Tobias, Korbel, Jan O., Eichler, Evan E.

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Single-cell strand sequencing of a macaque genome reveals multiple nested inversions and breakpoint reuse during primate evolution Autor Maggiolini, Flavia Angela Maria, Sanders, Ashley D., Shew, Colin James, Sulovari, Arvis, Mao, Yafei, Puig, Marta, Catacchio, Claudia Rita, Dellino, Maria, Palmisano, Donato, Mercuri, Ludovica, Bitonto, Miriana, Porubský, David, Cáceres, Mario, Eichler, Evan E., Ventura, Mario, Dennis, Megan Y., Korbel, Jan O., Antonacci, Francesca

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Characterizing the Major Structural Variant Alleles of the Human Genome Autor Audano, Peter A., Sulovari, Arvis, Graves-Lindsay, Tina A., Cantsilieris, Stuart, Sorensen, Melanie, Welch, AnneMarie E., Dougherty, Max L., Nelson, Bradley J., Shah, Ankeeta, Dutcher, Susan K., Warren, Wesley C., Magrini, Vincent, McGrath, Sean D., Li, Yang I., Wilson, Richard K., Eichler, Evan E.

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Improved assembly and variant detection of a haploid human genome using single-molecule, high-fidelity long reads Autor VOLLGER, MITCHELL R., LOGSDON, GLENNIS A., AUDANO, PETER A., SULOVARI, ARVIS, PORUBSKY, DAVID, PELUSO, PAUL, WENGER, AARON M., CONCEPCION, GREGORY T., KRONENBERG, ZEV N., MUNSON, KATHERINE M., BAKER, CARL, SANDERS, ASHLEY D., SPIERINGS, DIANA C.J., LANSDORP, PETER M., SURTI, URVASHI, HUNKAPILLER, MICHAEL W., EICHLER, EVAN E.

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Recent ultra-rare inherited variants implicate novel autism candidate risk genes Autor Wilfert, Amy B., Turner, Tychele N., Murali, Shwetha C., Hsieh, PingHsun, Sulovari, Arvis, Wang, Tianyun, Coe, Bradley P., Guo, Hui, Hoekzema, Kendra, Bakken, Trygve E., Winterkorn, Lara H., Evani, Uday S., Byrska-Bishop, Marta, Earl, Rachel K., Bernier, Raphael A., Zody, Michael C., Eichler, Evan E.

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SEGMENTAL DUPLICATIONS AND THEIR VARIATION IN A COMPLETE HUMAN GENOME Autor Vollger, Mitchell R., Guitart, Xavi, Dishuck, Philip C., Mercuri, Ludovica, Harvey, William T., Gershman, Ariel, Diekhans, Mark, Sulovari, Arvis, Munson, Katherine M., Lewis, Alexandra P., Hoekzema, Kendra, Porubsky, David, Li, Ruiyang, Nurk, Sergey, Koren, Sergey, Miga, Karen H., Phillippy, Adam M., Timp, Winston, Ventura, Mario, Eichler, Evan E.

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Evolution of a Human-Specific Tandem Repeat Associated with ALS Autor Course, Meredith M., Gudsnuk, Kathryn, Smukowski, Samuel N., Winston, Kosuke, Desai, Nitin, Ross, Jay P., Sulovari, Arvis, Bourassa, Cynthia V., Spiegelman, Dan, Couthouis, Julien, Yu, Chang-En, Tsuang, Debby W., Jayadev, Suman, Kay, Mark A., Gitler, Aaron D., Dupre, Nicolas, Eichler, Evan E., Dion, Patrick A., Rouleau, Guy A., Valdmanis, Paul N.

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Fully phased human genome assembly without parental data using single-cell strand sequencing and long reads Autor Porubsky, David, Ebert, Peter, Audano, Peter A., Vollger, Mitchell R., Harvey, William T., Marijon, Pierre, Ebler, Jana, Munson, Katherine M., Sorensen, Melanie, Sulovari, Arvis, Haukness, Marina, Ghareghani, Maryam, Lansdorp, Peter M., Paten, Benedict, Devine, Scott E., Sanders, Ashley D., Lee, Charles, Chaisson, Mark J. P., Korbel, Jan O., Eichler, Evan E., Marschall, Tobias

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An evolutionary driver of interspersed segmental duplications in primates Autor Cantsilieris, Stuart, Sunkin, Susan M., Johnson, Matthew E., Anaclerio, Fabio, Huddleston, John, Baker, Carl, Dougherty, Max L., Underwood, Jason G., Sulovari, Arvis, Hsieh, PingHsun, Mao, Yafei, Catacchio, Claudia Rita, Malig, Maika, Welch, AnneMarie E., Sorensen, Melanie, Munson, Katherine M., Jiang, Weihong, Girirajan, Santhosh, Ventura, Mario, Lamb, Bruce T., Conlon, Ronald A., Eichler, Evan E.

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Familial long-read sequencing increases yield of de novo mutations Autor Noyes, Michelle D., Harvey, William T., Porubsky, David, Sulovari, Arvis, Li, Ruiyang, Rose, Nicholas R., Audano, Peter A., Munson, Katherine M., Lewis, Alexandra P., Hoekzema, Kendra, Mantere, Tuomo, Graves-Lindsay, Tina A., Sanders, Ashley D., Goodwin, Sara, Kramer, Melissa, Mokrab, Younes, Zody, Michael C., Hoischen, Alexander, Korbel, Jan O., McCombie, W. Richard, Eichler, Evan E.

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