Zobrazeno 1 - 10
of 98
pro vyhledávání: '"Hallast P."'
Autor:
Feyza Yilmaz, Umamaheswaran Gurusamy, Trenell J. Mosley, Pille Hallast, Kwondo Kim, Yulia Mostovoy, Ryan H. Purcell, Tamim H. Shaikh, Michael E. Zwick, Pui-Yan Kwok, Charles Lee, Jennifer G. Mulle
Publikováno v:
Genome Medicine, Vol 15, Iss 1, Pp 1-17 (2023)
Abstract Background High sequence identity between segmental duplications (SDs) can facilitate copy number variants (CNVs) via non-allelic homologous recombination (NAHR). These CNVs are one of the fundamental causes of genomic disorders such as the
Externí odkaz:
https://doaj.org/article/e1441505fb324218b0dd9286ccd86457
Autor:
Makova, Kateryna D., Pickett, Brandon D., Harris, Robert S., Hartley, Gabrielle A., Cechova, Monika, Pal, Karol, Nurk, Sergey, Yoo, DongAhn, Li, Qiuhui, Hebbar, Prajna, McGrath, Barbara C., Antonacci, Francesca, Aubel, Margaux, Biddanda, Arjun, Borchers, Matthew, Bornberg-Bauer, Erich, Bouffard, Gerard G., Brooks, Shelise Y., Carbone, Lucia, Carrel, Laura, Carroll, Andrew, Chang, Pi-Chuan, Chin, Chen-Shan, Cook, Daniel E., Craig, Sarah J. C., de Gennaro, Luciana, Diekhans, Mark, Dutra, Amalia, Garcia, Gage H., Grady, Patrick G. S., Green, Richard E., Haddad, Diana, Hallast, Pille, Harvey, William T., Hickey, Glenn, Hillis, David A., Hoyt, Savannah J., Jeong, Hyeonsoo, Kamali, Kaivan, Pond, Sergei L. Kosakovsky, LaPolice, Troy M., Lee, Charles, Lewis, Alexandra P., Loh, Yong-Hwee E., Masterson, Patrick, McGarvey, Kelly M., McCoy, Rajiv C., Medvedev, Paul, Miga, Karen H., Munson, Katherine M., Pak, Evgenia, Paten, Benedict, Pinto, Brendan J., Potapova, Tamara, Rhie, Arang, Rocha, Joana L., Ryabov, Fedor, Ryder, Oliver A., Sacco, Samuel, Shafin, Kishwar, Shepelev, Valery A., Slon, Viviane, Solar, Steven J., Storer, Jessica M., Sudmant, Peter H., Sweetalana, Sweeten, Alex, Tassia, Michael G., Thibaud-Nissen, Françoise, Ventura, Mario, Wilson, Melissa A., Young, Alice C., Zeng, Huiqing, Zhang, Xinru, Szpiech, Zachary A., Huber, Christian D., Gerton, Jennifer L., Yi, Soojin V., Schatz, Michael C., Alexandrov, Ivan A., Koren, Sergey, O’Neill, Rachel J., Eichler, Evan E., Phillippy, Adam M.
Publikováno v:
Nature; June 2024, Vol. 630 Issue: 8016 p401-411, 11p
Autor:
Wentao Shi, Andrea Massaia, Sandra Louzada, Juliet Handsaker, William Chow, Shane McCarthy, Joanna Collins, Pille Hallast, Kerstin Howe, Deanna M. Church, Fengtang Yang, Yali Xue, Chris Tyler-Smith
Publikováno v:
Genome Biology, Vol 20, Iss 1, Pp 1-12 (2019)
Abstract Background Large palindromes (inverted repeats) make up substantial proportions of mammalian sex chromosomes, often contain genes, and have high rates of structural variation arising via ectopic recombination. As a result, they underlie many
Externí odkaz:
https://doaj.org/article/5ba9cce63efe42bd8ed8dde617f643c9
Autor:
Pille Hallast, Laura Kibena, Margus Punab, Elena Arciero, Siiri Rootsi, Marina Grigorova, Rodrigo Flores, Mark A Jobling, Olev Poolamets, Kristjan Pomm, Paul Korrovits, Kristiina Rull, Yali Xue, Chris Tyler-Smith, Maris Laan
Publikováno v:
eLife, Vol 10 (2021)
Male infertility is a prevalent condition, affecting 5–10% of men. So far, few genetic factors have been described as contributors to spermatogenic failure. Here, we report the first re-sequencing study of the Y-chromosomal Azoospermia Factor c (AZ
Externí odkaz:
https://doaj.org/article/8edcf883b35d416381d5dc683d243d22
Akademický článek
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Autor:
Hallast, Pille, Ebert, Peter, Loftus, Mark, Yilmaz, Feyza, Audano, Peter A., Logsdon, Glennis A., Bonder, Marc Jan, Zhou, Weichen, Höps, Wolfram, Kim, Kwondo, Li, Chong, Hoyt, Savannah J., Dishuck, Philip C., Porubsky, David, Tsetsos, Fotios, Kwon, Jee Young, Zhu, Qihui, Munson, Katherine M., Hasenfeld, Patrick, Harvey, William T., Lewis, Alexandra P., Kordosky, Jennifer, Hoekzema, Kendra, O’Neill, Rachel J., Korbel, Jan O., Tyler-Smith, Chris, Eichler, Evan E., Shi, Xinghua, Beck, Christine R., Marschall, Tobias, Konkel, Miriam K., Lee, Charles
Publikováno v:
Nature; 20230101, Issue: Preprints p1-10, 10p
Publikováno v:
PLoS Genetics, Vol 9, Iss 7, p e1003666 (2013)
The male-specific region of the human Y chromosome (MSY) includes eight large inverted repeats (palindromes) in which arm-to-arm similarity exceeds 99.9%, due to gene conversion activity. Here, we studied one of these palindromes, P6, in order to ill
Externí odkaz:
https://doaj.org/article/af3db258938e47648cee5c7f9151ad0e
Autor:
Eales J. M., Maan A. A., Xu X., Michoel T., Hallast P., Batini C., Zadik D., Prestes P. R., Molina E., Denniff M., Schroeder J., Bjorkegren J. L. M., Thompson J., Maffia P., Guzik T. J., Keavney B., Jobling M. A., Samani N. J., Charchar F. J., Tomaszewski M.
The male-specific region of the Y chromosome (MSY) remains one of the most unexplored regions of the genome. We sought to examine how the genetic variants of the MSY influence male susceptibility to coronary artery disease (CAD) and atherosclerosis.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=od______3730::a9aedc793b9d3f963a10f4c7308266c2
http://hdl.handle.net/11588/769814
http://hdl.handle.net/11588/769814
Akademický článek
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Publikováno v:
BMC Evolutionary Biology, Vol 8, Iss 1, p 195 (2008)
Abstract Background Low nucleotide divergence between human and chimpanzee does not sufficiently explain the species-specific morphological, physiological and behavioral traits. As gene duplication is a major prerequisite for the emergence of new gen
Externí odkaz:
https://doaj.org/article/88af5b6f76c5425e96336ae8eba325dd