Whole genome sequencing identifies novel genetic mutations in patients with eczema herpeticum

Allergy ◽  
2021 ◽  
Author(s):  
Lianghua Bin ◽  
Claire Malley ◽  
Patricia Taylor ◽  
Meher Preethi Boorgula ◽  
Sameer Chavan ◽  
...  
Keyword(s):  
Whole Genome Sequencing ◽  
Genome Sequencing ◽  
Genetic Mutations ◽  
Whole Genome ◽  
Eczema Herpeticum

scholarly journals Know your genes. The marketing of direct-to-consumer genetic testing

2011 ◽  
Vol 10 (03) ◽  
pp. C01
Author(s):  
Alessandro Delfanti
Keyword(s):  
Genetic Testing ◽  
Whole Genome Sequencing ◽  
Genome Sequencing ◽  
Free Market ◽  
Public Communication ◽  
Genetic Mutations ◽  
Whole Genome ◽  
Life Choices ◽  
Private Companies ◽  
Direct To Consumer

Genetic testing promises to put the ability to decide about our life choices in our hands, as well as help solve crucial health problems by preventing the insurgence of diseases. But what happens when these exams are managed by private companies in a free market? Public communication and marketing have proven to be crucial battlefields on which companies companies need to engage in order to emerge. This issue of JCOM tries to shed some light on the communication and marketing practices used by private companies that sell direct-to-consumer genetic testing, from single genetic mutations to whole genome sequencing.

scholarly journals Whole Genome Sequencing Analyses Identify SIDT2 Loss-of-function Mutations In Patients with Eczema Herpeticum

2020 ◽  
Vol 145 (2) ◽  
pp. AB189
Author(s):  
Lianghua Bin ◽  
Claire Malley ◽  
Patricia Taylor ◽  
Meher Preethi Boorgula ◽  
Sameer Chavan ◽  
...  
Keyword(s):  
Whole Genome Sequencing ◽  
Genome Sequencing ◽  
Whole Genome ◽  
Loss Of Function ◽  
Eczema Herpeticum

scholarly journals Emerging Mutations Potentially Related to SARS-CoV-2 Immune Escape: The Case of a Long-Term Patient

Life ◽  
2021 ◽  
Vol 11 (11) ◽  
pp. 1259
Author(s):  
Loredana Capozzi ◽  
Domenico Simone ◽  
Angelica Bianco ◽  
Laura Del Sambro ◽  
Valeria Rondinone ◽  
...  
Keyword(s):  
Whole Genome Sequencing ◽  
Clinical Features ◽  
Genome Sequencing ◽  
Significant Role ◽  
Immune Escape ◽  
Spike Protein ◽  
Genetic Mutations ◽  
Whole Genome ◽  
Viral Isolate

SARS-CoV-2 isolates from long-term COVID-19 patients play a significant role in understanding the mechanisms of infection and virus persistence. This study describes a SARS-CoV-2 isolate from a 53-year-old woman from Apulia (Italy), who was COVID-19 positive for approximately four months. In this paper we aimed to investigate any potential correlation between genetic mutations and clinical features of this case of infection. The viral isolate was assigned to lineage B.1.177.51 through whole-genome sequencing (WGS) and harbored a novel set of mutations on the Spike protein (V143D, del144/145 and E484K); furthermore, seroneutralization assays showed impaired response of the surveyed strain to BNT162b2 (Comirnaty) Pfizer/BioNTech vaccine-induced (average reduction of 70%) and convalescent sera (average reduction of 19.04%), when compared to VOC P.1. This study highlights the importance of genomic surveillance for the management of the COVID-19 pandemic, the relevance of monitoring of emerging SARS-CoV-2 mutations in all lineages, and the necessity of testing the response of emerging variants to available therapies and vaccines.

Utility of Whole Genome Sequencing in diagnosing complex disorders: lesson from renal tubular disorders

2018 ◽  
Author(s):  
Mark Stevenson ◽  
Alistair T Pagnamenta ◽  
Heather G Mack ◽  
Judith A Savige ◽  
Kate E Lines ◽  
...  
Keyword(s):  
Whole Genome Sequencing ◽  
Genome Sequencing ◽  
Whole Genome ◽  
Complex Disorders ◽  
Tubular Disorders ◽  
Renal Tubular Disorders ◽  
Renal Tubular

0306 Exploring the feasibility of using copy number variants as genetic markers through large-scale whole genome sequencing experiments

2016 ◽  
Vol 94 (suppl_5) ◽  
pp. 146-146
Author(s):  
D. M. Bickhart ◽  
L. Xu ◽  
J. L. Hutchison ◽  
J. B. Cole ◽  
D. J. Null ◽  
...  
Keyword(s):  
Whole Genome Sequencing ◽  
Genetic Markers ◽  
Genome Sequencing ◽  
Copy Number ◽  
Large Scale ◽  
Copy Number Variants ◽  
Whole Genome
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