Zobrazeno 1 - 10
of 5 774
pro vyhledávání: '"next-generation sequencing (ngs)"'
Publikováno v:
Alexandria Journal of Medicine, Vol 60, Iss 1, Pp 282-289 (2024)
Introduction Acute myeloid leukemia (AML) is a heterogeneous hematologic malignancy characterized by the clonal expansion of immature myeloid cells. Among the genetic alterations in AML, the RUNX1- RUNX1T1 fusion, resulting from the t (8; 21) (q22; q
Externí odkaz:
https://doaj.org/article/a8afefcf9d974e1a9ddc5d5ce50dca6b
Autor:
Sheng-Kai Lai, Allen Chilun Luo, I-Hsuan Chiu, Hui-Wen Chuang, Ting-Hsuan Chou, Tsung-Kai Hung, Jacob Shujui Hsu, Chien-Yu Chen, Wei-Shiung Yang, Ya-Chien Yang, Pei-Lung Chen
Publikováno v:
Computational and Structural Biotechnology Journal, Vol 23, Iss , Pp 1562-1571 (2024)
Human leukocyte antigen (HLA) genes play pivotal roles in numerous immunological applications. Given the immense number of polymorphisms, achieving accurate high-throughput HLA typing remains challenging. This study aimed to harness the human pan-gen
Externí odkaz:
https://doaj.org/article/08955c6a50a74592a2f382097a0b670e
Autor:
Anna Cho
Publikováno v:
Genomics & Informatics, Vol 22, Iss 1, Pp 1-4 (2024)
Abstract Neuromuscular diseases (NMDs) are a group of rare disorders characterized by significant genetic and clinical complexity. Advances in genomics have revolutionized both the diagnosis and treatment of NMDs. While fewer than 30 NMDs had known g
Externí odkaz:
https://doaj.org/article/51c571fa520a47f6b580de2ce255279b
Autor:
Valentina Rocca, Elisa Lo Feudo, Francesca Dinatolo, Serena Marianna Lavano, Anna Bilotta, Rosario Amato, Lucia D’Antona, Francesco Trapasso, Francesco Baudi, Emma Colao, Nicola Perrotti, Francesco Paduano, Rodolfo Iuliano
Publikováno v:
Current Issues in Molecular Biology, Vol 46, Iss 11, Pp 13003-13020 (2024)
Hereditary breast cancer accounts for 5–10% of all cases, with pathogenic variants in BRCA1/2 and other susceptibility genes playing a crucial role. This study elucidates the prevalence and spectrum of germline variants in 13 cancer predisposition
Externí odkaz:
https://doaj.org/article/a80b8401fe1d4c9b82ea515f1013b3a8
Autor:
Yuyang Wang, Panpan Xu, Yelin Han, Wenliang Zhao, Lamei Zhao, Rui Li, Junpeng Zhang, Shuyi Zhang, Jian Lu, Peter Daszak, Qi Jin, Zhiqiang Wu
Publikováno v:
Microbiome, Vol 12, Iss 1, Pp 1-17 (2024)
Abstract Background Bats (Order Chiroptera) are an important reservoir of emerging zoonotic microbes, including viruses of public health concern such as henipaviruses, lyssaviruses, and SARS-related coronaviruses. Despite the continued discovery of n
Externí odkaz:
https://doaj.org/article/0a2fa568a143441a95f10de0543454ca
Autor:
Yutaka Furuta, Rory J. Tinker, Rizwan Hamid, Joy D. Cogan, Kimberly M. Ezell, Devin Oglesbee, Ralph J. DeBerardinis, John A. Phillips, the Undiagnosed Diseases Network
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 19, Iss 1, Pp 1-11 (2024)
Abstract Background The number of known inherited metabolic diseases (IMDs) has been expanding, and the rate of diagnosis is improving with the development of innovative approaches including next generation sequencing (NGS). However, a substantial pr
Externí odkaz:
https://doaj.org/article/5009f7b9676c4d17bda5092fd4409131
Autor:
Gunhwan Ko, Pan-Gyu Kim, Byung-Ha Yoon, JaeHee Kim, Wangho Song, IkSu Byeon, JongCheol Yoon, Byungwook Lee, Young-Kuk Kim
Publikováno v:
BMC Bioinformatics, Vol 25, Iss 1, Pp 1-13 (2024)
Abstract Background The explosive growth of next-generation sequencing data has resulted in ultra-large-scale datasets and significant computational challenges. As the cost of next-generation sequencing (NGS) has decreased, the amount of genomic data
Externí odkaz:
https://doaj.org/article/bcd56411bb8e4c71ba54f44a0f1f2016
Autor:
Nicolas Luna, Luisa Páez-Triana, Angie L. Ramírez, Marina Muñoz, Marcela Goméz, Julián E. Medina, Plutarco Urbano, Karen Barragán, Catalina Ariza, Davinzon Martínez, Carolina Hernández, Luz H. Patiño, Juan David Ramirez
Publikováno v:
Scientific Reports, Vol 14, Iss 1, Pp 1-16 (2024)
Abstract Bats are known reservoirs for a wide range of pathogenic microorganisms, including viruses, bacteria, fungi, helminths, and protozoa, which can be transmitted and infect other zoonotic organisms. Various studies have utilised next-generation
Externí odkaz:
https://doaj.org/article/2a72d172da4a46e6a08f30f54fdcd111
Autor:
Mehrdad Mirzarahimi, Mohammad Panahi, Bahareh Rahimi, Ehsan Abbaspour Rodboneh, Shadi Abkhiz, Tannaz Fattahi, Sara Arish, Behzad Davarnia
Publikováno v:
Discover Applied Sciences, Vol 6, Iss 11, Pp 1-12 (2024)
Abstract This study aims to examine TPO gene mutations in congenital hypothyroidism (CH) within consanguineous Iranian Azeri families. Three families were subjected to next-generation sequencing and were subsequently validated using Sanger sequencing
Externí odkaz:
https://doaj.org/article/07ce059acff24821b4d89fbf6cb8a46c
Autor:
Shrinjana Dhar, Pritha Bhattacharjee
Publikováno v:
Scientific Reports, Vol 14, Iss 1, Pp 1-16 (2024)
Abstract Polycystic ovarian syndrome (PCOS) is one of the most common endocrinopathies among reproductive women worldwide, contributing greatly on the incidence of female infertility and gynecological cancers. It is a complex health condition combini
Externí odkaz:
https://doaj.org/article/645e6b939ecc47ffbd270aa0b1b2b603