Zobrazeno 1 - 10
of 450
pro vyhledávání: '"optical genome mapping"'
Autor:
Griet De Clercq, Lies Vantomme, Barbara Dewaele, Bert Callewaert, Olivier Vanakker, Sandra Janssens, Bart Loeys, Mojca Strazisar, Wouter De Coster, Joris Robert Vermeesch, Annelies Dheedene, Björn Menten
Publikováno v:
Scientific Reports, Vol 14, Iss 1, Pp 1-12 (2024)
Abstract Structural variants (SVs) are important contributors to human disease. Their characterization remains however difficult due to their size and association with repetitive regions. Long-read sequencing (LRS) and optical genome mapping (OGM) ca
Externí odkaz:
https://doaj.org/article/ddf31f2fa73e4d6bbc89654922dff66c
Autor:
Joanne Trinh, Susen Schaake, Carolin Gabbert, Theresa Lüth, Sally A. Cowley, André Fienemann, Kristian K. Ullrich, Christine Klein, Philip Seibler
Publikováno v:
BMC Genomics, Vol 25, Iss 1, Pp 1-12 (2024)
Abstract Background Certain structural variants (SVs) including large-scale genetic copy number variants, as well as copy number-neutral inversions and translocations may not all be resolved by chromosome karyotype studies. The identification of gene
Externí odkaz:
https://doaj.org/article/cef0b56f4f56419a8a23798df35cef52
Autor:
Yunting Ma, Chunrong Gui, Meizhen Shi, Lilin Wei, Junfang He, Bobo Xie, Haiyang Zheng, Xiaoyun Lei, Xianda Wei, Zifeng Cheng, Xu Zhou, Shaoke Chen, Jiefeng Luo, Yan Huang, Baoheng Gui
Publikováno v:
Human Genomics, Vol 18, Iss 1, Pp 1-14 (2024)
Abstract Background Deletion or duplication in the DMD gene is one of the most common causes of Duchenne and Becker muscular dystrophy (DMD/BMD). However, the pathogenicity of complex rearrangements involving DMD, especially segmental duplications wi
Externí odkaz:
https://doaj.org/article/53bdbb49b04c40d1bcdc0a8e3facd515
Publikováno v:
Genome Medicine, Vol 16, Iss 1, Pp 1-12 (2024)
Abstract Background Structural variations (SVs) are key genetic contributors to neurodevelopmental disorders (NDDs). Exome sequencing (ES), the current first-line tool for genetic testing of NDDs, falls short in SVs detection. This diagnostic gap is
Externí odkaz:
https://doaj.org/article/d474fb13f45846bbb3a107d90f32ef38
Autor:
Christina Zarouchlioti, Stephanie Efthymiou, Stefano Facchini, Natalia Dominik, Nihar Bhattacharyya, Siyin Liu, Marcos Abreu Costa, Anita Szabo, Amanda N. Sadan, Albert S. Jun, Enrico Bugiardini, Henry Houlden, Andrea Cortese, Pavlina Skalicka, Lubica Dudakova, Kirithika Muthusamy, Michael E. Cheetham, Alison J. Hardcastle, Petra Liskova, Stephen J. Tuft, Alice E. Davidson
Publikováno v:
EBioMedicine, Vol 108, Iss , Pp 105328- (2024)
Summary: Background: Fuchs endothelial corneal dystrophy (FECD) is the most common repeat-mediated disease in humans. It exclusively affects corneal endothelial cells (CECs), with ≤81% of cases associated with an intronic TCF4 triplet repeat (CTG18
Externí odkaz:
https://doaj.org/article/886fb84cc1b04e459db16fc8c11e4f8d
Publikováno v:
The Application of Clinical Genetics, Vol Volume 17, Pp 63-69 (2024)
Ying Wang, Shaohua Bi, Xiaoqing Shi, Liying Dai Division of Neonatology, Anhui Provincial Children’s Hospital, Hefei, Anhui, 230051, People’s Republic of ChinaCorrespondence: Liying Dai, Division of Neonatology, Anhui Province Children’s Hospit
Externí odkaz:
https://doaj.org/article/1154d6e5107c4877a808868b6f2d0901
Autor:
Isabelle Schrauwen, Yasmin Rajendran, Anushree Acharya, Susanna Öhman, Maria Arvio, Ritva Paetau, Auli Siren, Kristiina Avela, Johanna Granvik, Suzanne M. Leal, Tuomo Määttä, Hannaleena Kokkonen, Irma Järvelä
Publikováno v:
Scientific Reports, Vol 14, Iss 1, Pp 1-7 (2024)
Abstract While short-read sequencing currently dominates genetic research and diagnostics, it frequently falls short of capturing certain structural variants (SVs), which are often implicated in the etiology of neurodevelopmental disorders (NDDs). Op
Externí odkaz:
https://doaj.org/article/fbba5398c7c74c1c917830d716485070
Autor:
Elisa Rahikkala, Jonna Komulainen‐Ebrahim, Jussi‐Pekka Tolonen, Sandra Vorimo, Maria Suo‐Palosaari, Päivi Vieira, Johanna Piispala, Johanna Uusimaa, Katri Pylkäs, Tuomo Mantere
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 12, Iss 9, Pp n/a-n/a (2024)
ABSTRACT Background X‐linked recessive type 3 Charcot–Marie–Tooth (CMTX3) is a rare subtype of childhood‐onset CMT. To date, all reported CMTX3 patients share a common founder 78 kb insertion from chromosome 8 into the Xq27.1 palindrome regio
Externí odkaz:
https://doaj.org/article/2660da9047ef49dc9313746f0302fc09
Autor:
Aïcha Boughalem, Viorica Ciorna-Monferrato, Natacha Sloboda, Amélie Guegan, François Page, Sophie Zimmer, Marion Benazra, Pascale Kleinfinger, Laurence Lohmann, Mylène Valduga, Aline Receveur, Fernando Martin, Detlef Trost
Publikováno v:
Frontiers in Genetics, Vol 15 (2024)
We report an index patient with complete insensitivity to pain and a history of painless fractures, joint hypermobility, and behavioral problems. The index patient descends from a family with notable cases among his maternal relatives, including his
Externí odkaz:
https://doaj.org/article/75404f07759d4b46944b978c0e7573c8
Autor:
Jing Duan, Shirang Pan, Yuanzhen Ye, Zhanqi Hu, Li Chen, Dachao Liang, Tao Fu, Lintao Zhan, Zhuo Li, Jianxiang Liao, Xia Zhao
Publikováno v:
Frontiers in Cell and Developmental Biology, Vol 12 (2024)
BackgroundTuberous sclerosis is a multi-system disorder caused by mutations in either TSC1 or TSC2. The majority of affected patients (85%–90%) have heterozygous variants, and a smaller number (around 5%) have mosaic variants. Despite using various
Externí odkaz:
https://doaj.org/article/48b18941d25e439daffa75a0d453bd12