Zobrazeno 1 - 10
of 1 237
pro vyhledávání: '"Third generation sequencing"'
Publikováno v:
BMC Medical Genomics, Vol 17, Iss 1, Pp 1-10 (2024)
Abstract Background Third-generation sequencing (TGS) based on long-read technology has been gradually used in identifying thalassemia and hemoglobin (Hb) variants. The aim of the present study was to explore genotype varieties of thalassemia and Hb
Externí odkaz:
https://doaj.org/article/6cd02a5d73b14364846fb5cb66220500
Publikováno v:
Human Genomics, Vol 18, Iss 1, Pp 1-11 (2024)
Abstract Spinal muscular atrophy (SMA) is the second most common fatal genetic disease in infancy. It is caused by deletion or intragenic pathogenic variants of the causative gene SMN1, which degenerates anterior horn motor neurons and leads to progr
Externí odkaz:
https://doaj.org/article/7b6d1a3ba0c44da38172ddf17cbbbd63
Autor:
Jingyi LIU, Danli CUI, Fang WANG, Meijun LI, Dong LIU, Xiaoyan XIE, Min CHEN, Weiyi FU, Dongyan YANG, Qiaolin ZHANG
Publikováno v:
Zhongguo shuxue zazhi, Vol 37, Iss 8, Pp 879-885 (2024)
Objective To conduct Rh blood group serological testing and third-generation sequencing(TGS) on 22 RhD variant voluntary blood donors in Chongqing and explore the phenotypic distribution and genotyping of RhD variants in Chongqing. Methods From Janua
Externí odkaz:
https://doaj.org/article/4b97b4c33fe348fab59bc5263562882d
Autor:
Jian-lian Liang, Yi-yuan Ge, Jing-wei Situ, Jin-xiu Yao, Jin-ling Chen, Long-xu Xie, Li-ye Yang
Publikováno v:
Hematology, Vol 29, Iss 1 (2024)
Objective To summarize and analyze the clinical characteristics of the Hb Phnom Penh (HBA1:c.354_355insATC) variant in the Chinese population, and to guide clinical diagnosis and genetic counseling for hemoglobin disorders.Methods Peripheral blood sa
Externí odkaz:
https://doaj.org/article/6895606d791a43cdb7fa553a0c13a0ba
Publikováno v:
Hematology, Vol 29, Iss 1 (2024)
Objective To describe a novel α-thalassemiadeletion identified from a newborn by third-generation sequencing (TGS).Case report The proband, a newborn subject to neonatal capillary electrophoresis (CE) screening, exhibited suspected α0-thalassemia c
Externí odkaz:
https://doaj.org/article/da4ad981517147f98bda0055d0886abd
Publikováno v:
Fundamental Research, Vol 4, Iss 4, Pp 785-794 (2024)
DNA barcodes, short and unique DNA sequences, play a crucial role in sample identification when processing many samples simultaneously, which helps reduce experimental costs. Nevertheless, the low quality of long-read sequencing makes it difficult to
Externí odkaz:
https://doaj.org/article/9e5df3c4415d4600984149c553d369a4
Publikováno v:
Genome Biology, Vol 25, Iss 1, Pp 1-25 (2024)
Abstract Background Structural variation (SV) detection methods using third-generation sequencing data are widely employed, yet accurately detecting SVs remains challenging. Different methods often yield inconsistent results for certain SV types, com
Externí odkaz:
https://doaj.org/article/e81e3f3eb358462cb8209786334724fa
Publikováno v:
BMC Pediatrics, Vol 24, Iss 1, Pp 1-8 (2024)
Abstract Background Thalassemias represent some of the most common monogenic diseases worldwide and are caused by variations in human hemoglobin genes which disrupt the balance of synthesis between the alpha and beta globin chains. Thalassemia gene d
Externí odkaz:
https://doaj.org/article/ac71e889cd7843b3beb0f0a5aa646652
Autor:
Noah Greenman, Latifa S. Abdelli, Sayf Al-Deen Hassouneh, Sobur Ali, Catherine Johnston, Saleh A. Naser, Taj Azarian
Publikováno v:
Frontiers in Microbiomes, Vol 3 (2024)
Propionic acid (PPA), an anti-fungal agent and common food additive, has been shown to induce atypical neurodevelopment in mice, accompanied by gastrointestinal dysfunction potentially resulting from gut dysbiosis. A putative association between diet
Externí odkaz:
https://doaj.org/article/40e75a591aa94937bb8c6e6344c80efa
Autor:
Tianxiang Gao, Wenyu Li, Yinquan Qu, Xingle Guo, Yiting Wang, Chenfeng Zhao, Fangrui Lou, Qi Liu
Publikováno v:
Data in Brief, Vol 56, Iss , Pp 110704- (2024)
The classification of the Uranoscopidae species is controversial and the Ichthyscopus pollicaris belonging to Uranoscopidae was first reported in 2019. In the present study, the whole genome sequence of I. pollicaris were generated by PacBio and Illu
Externí odkaz:
https://doaj.org/article/8cecf7f51b0b41cd9c030cd0eab86a6f