Zobrazeno 1 - 10
of 393
pro vyhledávání: '"targeted NGS"'
Autor:
Nirosha Kugalingam, Deepthi De Silva, Hiranya Abeysekera, Sriyani Nanayakkara, Shamala Tirimanne, Dinali Ranaweera, Prashanth Suravajhala, Vishvanath Chandrasekharan
Publikováno v:
BMC Medical Genomics, Vol 16, Iss 1, Pp 1-8 (2023)
Abstract Background Retinoblastoma (RB) a tumour affecting those under 5 years, has a prevalence of 1 in 20,000, with around twenty new diagnoses per year in Sri Lanka. Unilateral and bilateral RB presents around 24 and 15 months respectively. Approx
Externí odkaz:
https://doaj.org/article/2fdaaed7865345358101b488764b3238
Autor:
Catherine I. Dumur, Ramakrishnan Krishnan, Jorge A. Almenara, Kathleen E. Brown, Kailyn R. Dugan, Christiana Farni, Fatima Z. Ibrahim, Naomi A. Sanchez, Sumra Rathore, Dinesh Pradhan, Jonathan H. Hughes
Publikováno v:
Journal of Molecular Pathology, Vol 4, Iss 2, Pp 109-127 (2023)
The detection of driver oncogenic variants and the recent identification of tumor-agnostic genomic biomarkers has driven the use of comprehensive genomic profiling (CGP) for disease diagnosis, prognosis, and treatment selection. The Oncomine™ Compr
Externí odkaz:
https://doaj.org/article/8d8880e63def4712a1fac7c08739e665
Publikováno v:
BMC Genomics, Vol 23, Iss 1, Pp 1-8 (2022)
Abstract Background Oculocutaneous albinism (OCA) is a group of heterogeneous genetic diseases characterized by a reduction or complete lack of pigmentation in the hair, skin, and eyes. It is associated with reduced visual acuity, nystagmus, photopho
Externí odkaz:
https://doaj.org/article/7c66af441edc4399b5431a089d995b0d
Autor:
Yoshinori Satomura, Kazuhiko Bessho, Nobutoshi Nawa, Hidehito Kondo, Shogo Ito, Takao Togawa, Masanao Yano, Yuki Yamano, Taisuke Inoue, Miho Fukui, Shinsuke Onuma, Tomoya Fukuoka, Kie Yasuda, Takeshi Kimura, Makiko Tachibana, Taichi Kitaoka, Shin Nabatame, Keiichi Ozono
Publikováno v:
Journal of Medical Case Reports, Vol 16, Iss 1, Pp 1-6 (2022)
Abstract Background Arthrogryposis, renal dysfunction, and cholestasis syndrome (ARCS) is a rare autosomal recessive disorder caused by mutations in VPS33B (ARCS1) and VIPAS39 (ARCS2). As per literature, most patients with ARCS died of persistent inf
Externí odkaz:
https://doaj.org/article/ac1143801be74e5f85e9d7f8ee61ab4c
Publikováno v:
Microbiology Spectrum, Vol 10, Iss 6 (2022)
ABSTRACT Targeted next-generation sequencing (tNGS) has emerged as an alternative method for detecting drug-resistant tuberculosis (DR-TB). To provide comprehensive drug susceptibility information and to address mutations missed by available commerci
Externí odkaz:
https://doaj.org/article/e2625683fc5443858b58c3f4fe0d2e5c
Autor:
Hediye Nese Cinar, Gopal Gopinath, Sonia Almería, Joyce M. Njoroge, Helen R. Murphy, Alexandre da Silva
Publikováno v:
Heliyon, Vol 8, Iss 11, Pp e11575- (2022)
Cyclospora cayetanensis, a coccidian apicomplexan parasite, causes large outbreaks of foodborne diarrheal disease globally. Tracking the source of C. cayetanensis oocyst contamination in food items is essential to reduce, even prevent outbreaks. We p
Externí odkaz:
https://doaj.org/article/967a12f269fe4ff48952f4504674f865
Akademický článek
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Publikováno v:
Microbiology Spectrum, Vol 10, Iss 4 (2022)
ABSTRACT Currently available methods for the laboratory investigation of Legionella pneumophila outbreaks require organism culture. The ability to sequence L. pneumophila directly from clinical samples would significantly reduce delays. Here, we deve
Externí odkaz:
https://doaj.org/article/e9ebfda495d04cf8b50c51c71ef47c67
Publikováno v:
Frontiers in Endocrinology, Vol 13 (2022)
BackgroundDespite the new next-generation sequencing (NGS) molecular approaches implemented the genetic testing in clinical diagnosis, copy number variation (CNV) detection from NGS data remains difficult mainly in the absence of bioinformatics perso
Externí odkaz:
https://doaj.org/article/a09ca03b26e24bba9508542aa1b6cce3
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 15, Iss 1, Pp 1-19 (2020)
Abstract Background Leber congenital amaurosis (LCA) is a rare retinal disease that is the most frequent cause of congenital blindness in children and the most severe form of inherited retinal dystrophies. To date, 25 genes have been implicated in th
Externí odkaz:
https://doaj.org/article/d7aac159211542d7afe3f813e23a5828