检索结果 - Sulovari, Arvis

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

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Characterization of Hepatitis B Virus Integrations Identified in Hepatocellular Carcinoma Genomes 由 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 由 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 由 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 由 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 由 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 由 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 由 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 由 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 由 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 由 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 由 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 由 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 由 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 由 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 由 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 由 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 由 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 由 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 由 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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