Zobrazeno 1 - 10
of 25 509
pro vyhledávání: '"copy-number variation"'
Autor:
Marija Debeljak, Soonweng Cho, Bradley M. Downs, Michael Considine, Brittany Avin-McKelvey, Yongchun Wang, Phillip N. Perez, William E. Grizzle, Katherine A. Hoadley, Charles F. Lynch, Brenda Y. Hernandez, Paul J. van Diest, Wendy Cozen, Ann S. Hamilton, Debra Hawes, Edward Gabrielson, Ashley Cimino-Mathews, Liliana D. Florea, Leslie Cope, Christopher B. Umbricht
Publikováno v:
Breast Cancer Research, Vol 26, Iss 1, Pp 1-15 (2024)
Abstract Background Ductal carcinoma in-situ (DCIS) is a pre-invasive form of invasive breast cancer (IBC). Due to improved breast cancer screening, it now accounts for ~ 25% of all breast cancers. While the treatment success rates are over 90%, this
Externí odkaz:
https://doaj.org/article/a106b36b520948e78078f14a3c21f70b
Autor:
Mengru Xu, Qian Tang, Jingjing Qi, Xu Han, Qiuyu Tao, Yinjuan Lu, Yuan Bai, Shenqiang Hu, Liang Li, Lili Bai, Jiwei Hu, Jiwen Wang, Hehe Liu
Publikováno v:
BMC Genomics, Vol 25, Iss 1, Pp 1-13 (2024)
Abstract Background Puberty onset signifies the beginning of sexual maturation and reproductive phase in poultry indeed, and plays an essential role in genetics and breeding. Studying gonadal development is one of the important approaches to explorin
Externí odkaz:
https://doaj.org/article/a30788f1acf14c8c9289037af0bccdb7
Publikováno v:
BMC Pregnancy and Childbirth, Vol 24, Iss 1, Pp 1-12 (2024)
Abstract Background Congenital heart disease (CHD) is a heterogeneous collection of structural abnormalities of the heart or great vessels that are present at birth. These birth defects are one of the leading causes of infant mortality and morbidity
Externí odkaz:
https://doaj.org/article/272ae35880194f73abbf2977481f06fa
Autor:
Wondossen Ayalew, Wu Xiaoyun, Getinet Mekuriaw Tarekegn, Tesfaye Sisay Tessema, Min Chu, Chunnian Liang, Rakan Naboulsi, Renaud Van Damme, Erik Bongcam-Rudloff, Yan Ping
Publikováno v:
BMC Genomics, Vol 25, Iss 1, Pp 1-14 (2024)
Abstract Background Genomic structural variations (GSVs), notably copy number variations (CNVs), significantly shape genetic diversity and facilitate adaptation in cattle populations. Despite their importance, the genome-wide characterization of CNVs
Externí odkaz:
https://doaj.org/article/1fe59a6465c543c3ae19a96d94d04958
Publikováno v:
BMC Medical Genomics, Vol 17, Iss 1, Pp 1-9 (2024)
Abstract Background Coffin-Siris syndrome is a clinically elusive and rare genetic disease characterized by a wide range of clinical manifestations. This study deeply analyzed and identified the clinical phenotype and genetic variant location in a pe
Externí odkaz:
https://doaj.org/article/28feb307ac30452b928e850cd5d9e71e
Autor:
Sairam Behera, Jonathan R. Belyeu, Xiao Chen, Luis F. Paulin, Ngoc Quynh H. Nguyen, Emma Newman, Medhat Mahmoud, Vipin K. Menon, Qibin Qi, Parag Joshi, Santica Marcovina, Massimiliano Rossi, Eric Roller, James Han, Vitor Onuchic, Christy L. Avery, Christie M. Ballantyne, Carlos J. Rodriguez, Robert C. Kaplan, Donna M. Muzny, Ginger A. Metcalf, Richard A. Gibbs, Bing Yu, Eric Boerwinkle, Michael A. Eberle, Fritz J. Sedlazeck
Publikováno v:
BMC Medical Genomics, Vol 17, Iss 1, Pp 1-15 (2024)
Abstract The abundance of Lp(a) protein holds significant implications for the risk of cardiovascular disease (CVD), which is directly impacted by the copy number (CN) of KIV-2, a 5.5 kbp sub-region. KIV-2 is highly polymorphic in the population and
Externí odkaz:
https://doaj.org/article/b08e11c0c6a64b4e840870232441e2bd
Publikováno v:
BMC Genomics, Vol 25, Iss 1, Pp 1-12 (2024)
Abstract Background Structural variations (SVs) are widespread across genome and have a great impact on evolution, disease, and phenotypic diversity. Despite the development of numerous bioinformatic tools, commonly referred to as SV callers, tailore
Externí odkaz:
https://doaj.org/article/f7244c42b88a415f93d926c537c5264f
Publikováno v:
International Journal of General Medicine, Vol Volume 17, Pp 4645-4658 (2024)
Liubing Lan,1,2 Dandan Luo,1,2 Jianwen Lian,1 Lingna She,1,3 Bosen Zhang,1,3 Hua Zhong,1 Huaxian Wang,1 Heming Wu1 1Department of Prenatal Diagnostic Center, Meizhou People’s Hospital, Meizhou, People’s Republic of China; 2Department of Obstetric
Externí odkaz:
https://doaj.org/article/9f26627fb42e459db38c910157ed8269
Autor:
Stephan Amstler, Gertraud Streiter, Cathrin Pfurtscheller, Lukas Forer, Silvia Di Maio, Hansi Weissensteiner, Bernhard Paulweber, Sebastian Schönherr, Florian Kronenberg, Stefan Coassin
Publikováno v:
Genome Medicine, Vol 16, Iss 1, Pp 1-20 (2024)
Abstract Background Repetitive genome regions, such as variable number of tandem repeats (VNTR) or short tandem repeats (STR), are major constituents of the uncharted dark genome and evade conventional sequencing approaches. The protein-coding LPA kr
Externí odkaz:
https://doaj.org/article/bde48c73a9414062bd1f43f22b094d64
Publikováno v:
International Journal of Women's Health, Vol Volume 16, Pp 1661-1669 (2024)
Li Yang,1 Jing Yang,2 Guosen Bu,3 Rui Han,1 Jiamila Rezhake,1 Xiaolin La1 1Center of Reproductive Medicine, The First Affiliated Hospital of Xinjiang Medical University, Urumqi, 830054, People’s Republic of China; 2Department of Gynaecology, The Fi
Externí odkaz:
https://doaj.org/article/b9a48660174a4a969e981f3b6e6bd156