Zobrazeno 1 - 10
of 8 046
pro vyhledávání: '"CNV"'
Publikováno v:
Scientific Reports, Vol 14, Iss 1, Pp 1-12 (2024)
Abstract Copy number variants (CNVs) are structural variants within the eukaryotic genome that vary among individuals of a species. These variants have been associated with different phenotypic traits, making them a valuable consideration as markers
Externí odkaz:
https://doaj.org/article/a8a3ee0dc0294589b6e5666b603c1be5
Autor:
Haydee Artaza, Ksenia Lavrichenko, Anette S. B. Wolff, Ellen C. Røyrvik, Marc Vaudel, Stefan Johansson
Publikováno v:
BMC Bioinformatics, Vol 25, Iss 1, Pp 1-13 (2024)
Abstract Background Rare copy number variants (CNVs) significantly influence the human genome and may contribute to disease susceptibility. High-throughput SNP genotyping platforms provide data that can be used for CNV detection, but it requires the
Externí odkaz:
https://doaj.org/article/0a7ee445bc0e43619264c6afca754e97
Autor:
Laura Vízkeleti, Orsolya Papp, Viktória Doma, Jeovanis Gil, György Markó-Varga, Szonja A. Kovács, Balázs Győrffy, Sarolta Kárpáti, József Tímár
Publikováno v:
Scientific Reports, Vol 14, Iss 1, Pp 1-16 (2024)
Abstract Malignant melanoma is a difficult-to-treat skin cancer with increasing incidence worldwide. Although type-I interferon (IFN) is no longer part of guidelines, several melanoma patients are treated with type-I interferon (IFN) at some point of
Externí odkaz:
https://doaj.org/article/c19738d85de242578f64a9a66457ea73
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:
Allergology International, Vol 73, Iss 4, Pp 494-500 (2024)
In 2004, we started the initial attempt to evaluate the efficacy of SLIT for Japanese cedar pollinosis (JCP) using Japanese cedar (JC) pollen extract solution through a multicenter, placebo-controlled, double-blind comparative study. Based on its suc
Externí odkaz:
https://doaj.org/article/a342fa55a07e43c7a1dd664ebbdbed86
Publikováno v:
Diagnostic Pathology, Vol 19, Iss 1, Pp 1-8 (2024)
Abstract Background Ewing sarcoma (EwS) is a highly malignant and heterogeneous tumor. Exploring clinicopathological characteristics and genetic features of EwS is critical for prognosis and treatment regimen. Methods Clinicopathological characterist
Externí odkaz:
https://doaj.org/article/ad44bdb4df4e4489933accf0e0f0eb26
Publikováno v:
Discover Oncology, Vol 15, Iss 1, Pp 1-20 (2024)
Abstract Background The study aims to comprehensively combine colorectal cancer data cohorts in order to analyze the effects of various DNA methylation-coding genes on colorectal cancer patients. The annual incidence and mortality of colorectal cance
Externí odkaz:
https://doaj.org/article/5f32a20bd2594d1a9b236d9b96c48d2e
Autor:
Tahir Atik, Enise Avci Durmusalioglu, Esra Isik, Melis Kose, Seda Kanmaz, Ayca Aykut, Asude Durmaz, Ferda Ozkinay, Ozgur Cogulu
Publikováno v:
BMC Medical Genomics, Vol 17, Iss 1, Pp 1-9 (2024)
Abstract Next-generation sequencing (NGS) coupled with bioinformatic tools has revolutionized the detection of copy number variations (CNVs), which are implicated in the emergence of Mendelian disorders. In this study, we evaluated the diagnostic yie
Externí odkaz:
https://doaj.org/article/a0421072dfa4463f9a6101d635380e82
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 19, Iss 1, Pp 1-10 (2024)
Abstract Background Whole exome sequencing (WES) has been recommended to investigate the genetic cause of fetal structural anomalies. In this retrospective study, we aimed to evaluate the diagnostic yield of WES in our cohort of families with pregnan
Externí odkaz:
https://doaj.org/article/a331255f4fd14b9b95100731bae58c9d
Publikováno v:
Ophthalmology and Therapy, Vol 13, Iss 10, Pp 2679-2695 (2024)
Abstract Introduction The purpose of this study is to identify the factors affecting neovascular age-related macular degeneration (nAMD) disease stability after brolucizumab treatment. Methods We retrospectively analyzed the medical records of 31 pat
Externí odkaz:
https://doaj.org/article/8dbfd47ed35d443a801d3f8f8252c2d9