Copy-number variants in clinical genome sequencing: deployment and interpretation for rare and undiagnosed disease
Sign Up to like & getrecommendations! Published in 2018 at "Genetics in Medicine"
DOI: 10.1038/s41436-018-0295-y
Abstract: PurposeCurrent diagnostic testing for genetic disorders involves serial use of specialized assays spanning multiple technologies. In principle, genome sequencing (GS) can detect all genomic pathogenic variant types on a single platform. Here we evaluate copy-number… read more here.
Keywords: rare undiagnosed; copy number; variants clinical; number ... See more keywords
Impact of genetic variants in clinical outcome of a cohort of patients with oropharyngeal squamous cell carcinoma
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DOI: 10.1038/s41598-020-66741-z
Abstract: Tobacco- or human papillomavirus- driven oropharyngeal squamous cell carcinomas (OpSCC) represent distinct clinical, biological and epidemiological entities. The aim of this study was to identify genetic variants based on somatic alterations in OpSCC samples from… read more here.
Keywords: variants clinical; genetic variants; squamous cell; impact genetic ... See more keywords
Novel Variants and Clinical Characteristics of 16 Patients from Southeast Asia with Genetic Variants in Neurofibromin-1
Sign Up to like & getrecommendations! Published in 2021 at "Journal of Pediatric Genetics"
DOI: 10.1055/s-0041-1736457
Abstract: Neurofibromatosis type 1 (NF1) is one of the most common inherited disorders. It is caused by mutations in the neurofibromin-1 gene (NF1) and affects the formation and growth of nerve tissues. More than 3,600 pathogenic… read more here.
Keywords: patients southeast; variants clinical; characteristics patients; southeast asia ... See more keywords
Migraine: Genetic Variants and Clinical Phenotypes.
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DOI: 10.2174/0929867325666180719120215
Abstract: Migraine is a common, chronic neurovascular disorder caused by a complex interaction between genetic and environmental risk factors. In the last two decades, molecular genetics of migraine have been intensively investigated. In a few cases,… read more here.
Keywords: phenotype; variants clinical; clinical phenotypes; genetic variants ... See more keywords
SARS-CoV-2 Variants and Clinical Outcomes: A Systematic Review
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DOI: 10.3390/life12020170
Abstract: Background: From the start of the COVID-19 pandemic, new SARS-CoV-2 variants have emerged that potentially affect transmissibility, severity, and immune evasion in infected individuals. In the present systematic review, the impact of different SARS-CoV-2 variants… read more here.
Keywords: sars cov; variants clinical; cov variants; systematic review ... See more keywords