Zobrazeno 1 - 10
of 333
pro vyhledávání: '"clinical sequencing"'
Autor:
Yen Thi My Nguyen, Bao-Quoc Vu, Duy-Khai Nguyen, Ngoc-Vinh Quach, Liem Thanh Bui, Jeonghan Hong, Chi-Bao Bui
Publikováno v:
Scientific Reports, Vol 14, Iss 1, Pp 1-13 (2024)
Abstract Neonatal intensive care unit (NICU), particularly in treating developmental and epileptic encephalopathy (DEE) and metabolic epilepsy (ME), requires a deep understanding of their complex etiologies and treatment responses. After excluding tr
Externí odkaz:
https://doaj.org/article/82f123a85d2440b7ba55d63af1b5887e
Autor:
Yu Wei, Tingwei Zhang, Beihe Wang, Jian Pan, Shengming Jin, Bangwei Fang, Weijie Gu, Xiaojian Qin, Bo Dai, Guowen Lin, Hualei Gan, Junlong Wu, Dingwei Ye, Yao Zhu
Publikováno v:
Molecular Oncology, Vol 17, Iss 10, Pp 2183-2199 (2023)
Although there is a well‐known disparity in prostate cancer (PC) incidence and mortality between Chinese and Western patients, the underlying genomic differences have been investigated only sparsely. This clinicogenomic study was conducted to revea
Externí odkaz:
https://doaj.org/article/f9e860412c7a40bbbe0adb414eafb7c5
Akademický článek
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Autor:
Pham Nguyen Quy, Keita Fukuyama, Masashi Kanai, Tadayuki Kou, Tomohiro Kondo, Masahiro Yoshioka, Junichi Matsubara, Tomohiro Sakuma, Sachiko Minamiguchi, Shigemi Matsumoto, Manabu Muto
Publikováno v:
BMC Medical Genomics, Vol 15, Iss 1, Pp 1-11 (2022)
Abstract Background Tumor heterogeneity has been known to cause inter-assay discordance among next-generation sequencing (NGS) results. However, whether preclinical factors such as sample type, sample quality and analytical features of gene panel can
Externí odkaz:
https://doaj.org/article/a2763927252e4588ab2d93d2b2644cf5
Autor:
Kenneth D. Doig, Christopher G. Love, Thomas Conway, Andrei Seleznev, David Ma, Andrew Fellowes, Piers Blombery, Stephen B. Fox
Publikováno v:
BMC Medical Genomics, Vol 15, Iss 1, Pp 1-12 (2022)
Abstract Background Next generation sequencing for oncology patient management is now routine in clinical pathology laboratories. Although wet lab, sequencing and pipeline tasks are largely automated, the analysis of variants for clinical reporting r
Externí odkaz:
https://doaj.org/article/9adcc47954bd489dbac88173e5089a37
Publikováno v:
Acta Chimica Slovenica, Vol 68, Iss 2, Pp 268-278 (2021)
Despite being around for more than 40 years, DNA sequencing is regarded as young technology in clinical medicine. As sequencing is becoming cheaper, faster and more accurate, it is rapidly being incorporated into clinical laboratories. In 2003, the c
Externí odkaz:
https://doaj.org/article/8235e7ab667946bba6e4f4cb980a16e5
Autor:
Keiko Saotome, Tatsuyuki Chiyoda, Eriko Aimono, Kohei Nakamura, Shigeki Tanishima, Sachio Nohara, Chihiro Okada, Hideyuki Hayashi, Yuka Kuroda, Hiroyuki Nomura, Nobuyuki Susumu, Takashi Iwata, Wataru Yamagami, Fumio Kataoka, Hiroshi Nishihara, Daisuke Aoki
Publikováno v:
Cancer Medicine, Vol 9, Iss 20, Pp 7407-7417 (2020)
Abstract Precision medicine based on cancer genomics is being applied in clinical practice. However, patients do not always derive benefits from genomic testing. Here, we performed targeted amplicon exome sequencing‐based panel tests, including 160
Externí odkaz:
https://doaj.org/article/2d19c02abb76489399e586dae50834c3
Autor:
Daniel C. Koboldt
Publikováno v:
Genome Medicine, Vol 12, Iss 1, Pp 1-13 (2020)
Abstract Next-generation sequencing technologies have enabled a dramatic expansion of clinical genetic testing both for inherited conditions and diseases such as cancer. Accurate variant calling in NGS data is a critical step upon which virtually all
Externí odkaz:
https://doaj.org/article/cb62fd041afe4326a8b1ee031cfe29f4
Publikováno v:
Allergy, Asthma & Clinical Immunology, Vol 15, Iss 1, Pp 1-4 (2019)
Abstract Background Hereditary angioedema (HAE) is a potentially life-threatening group of conditions that is often underdiagnosed or misdiagnosed. As HAE is typically diagnosed by detecting C1 inhibitor deficiency, there is a critical need for metho
Externí odkaz:
https://doaj.org/article/29d4a023fb1444d28f7ac8f81b3c7739
Autor:
Susan M. Hiatt, James M.J. Lawlor, Lori H. Handley, Ryne C. Ramaker, Brianne B. Rogers, E. Christopher Partridge, Lori Beth Boston, Melissa Williams, Christopher B. Plott, Jerry Jenkins, David E. Gray, James M. Holt, Kevin M. Bowling, E. Martina Bebin, Jane Grimwood, Jeremy Schmutz, Gregory M. Cooper
Publikováno v:
HGG Advances, Vol 2, Iss 2, Pp 100023- (2021)
Summary: Exome and genome sequencing have proven to be effective tools for the diagnosis of neurodevelopmental disorders (NDDs), but large fractions of NDDs cannot be attributed to currently detectable genetic variation. This is likely, at least in p
Externí odkaz:
https://doaj.org/article/9e89b02fe99e4ca599239301f8118f70