scholarly journals Application of shotgun metagenomics sequencing and targeted sequence capture to detect circulating porcine viruses in the Dutch‐German border region

Author(s):  
Leonard Schuele ◽  
Erley Lizarazo‐Forero ◽  
Katrin Strutzberg‐Minder ◽  
Sabine Schütze ◽  
Sandra Löbert ◽  
...  
2020 ◽  
Author(s):  
Ting Wang ◽  
Qingshan Chen ◽  
Longhao Kuang ◽  
Jiantao Wang ◽  
Xiaohe Yan

Abstract Background: Bietti crystalline corneoretinal dystrophy (BCD) is an autosomal recessive retinal dystrophy which is caused by the mutations of CYP4V2.Here we identified new CYP4V2compound heterozygous mutations in BCD.Methods:381 pathogenic genes related to retinal diseases were screened by targeted sequence capture array techniques and confirmed by Sanger sequencing.Results:Two female siblings with BCD carry two compound heterozygous mutations in CYP4V2. One was missense mutation c.1198C>T (p.R400C) and the other was frameshift mutation c.802-8_810delinsGC (p.V268_E329del).Optical coherence tomography (OCT) showed that the ellipsoid zone was absent in the macular regions and electroretinogram (ERG) revealed poor cone and rod responses. Conclusions:Newcompound heterozygous mutations in CYP4V2 are related to the BCD.Our study expands our knowledge of heterogenic phenotypes and genotypes through genetic diagnosis of the BCD patients.


2020 ◽  
Vol 8 (10) ◽  
Author(s):  
Brian J. Sanderson ◽  
Stephen P. DiFazio ◽  
Quentin C. B. Cronk ◽  
Tao Ma ◽  
Matthew S. Olson

2015 ◽  
Vol 43 (6) ◽  
pp. 3389-3404 ◽  
Author(s):  
Henriette O'Geen ◽  
Isabelle M. Henry ◽  
Mital S. Bhakta ◽  
Joshua F. Meckler ◽  
David J. Segal

2019 ◽  
Vol 20 (1) ◽  
pp. 140-153 ◽  
Author(s):  
Laurel R. Yohe ◽  
Kalina T. J. Davies ◽  
Nancy B. Simmons ◽  
Karen E. Sears ◽  
Elizabeth R. Dumont ◽  
...  

Viruses ◽  
2020 ◽  
Vol 12 (12) ◽  
pp. 1358
Author(s):  
Leonard Schuele ◽  
Hayley Cassidy ◽  
Erley Lizarazo ◽  
Katrin Strutzberg-Minder ◽  
Sabine Schuetze ◽  
...  

Shotgun metagenomic sequencing (SMg) enables the simultaneous detection and characterization of viruses in human, animal and environmental samples. However, lack of sensitivity still poses a challenge and may lead to poor detection and data acquisition for detailed analysis. To improve sensitivity, we assessed a broad scope targeted sequence capture (TSC) panel (ViroCap) in both human and animal samples. Moreover, we adjusted TSC for the Oxford Nanopore MinION and compared the performance to an SMg approach. TSC on the Illumina NextSeq served as the gold standard. Overall, TSC increased the viral read count significantly in challenging human samples, with the highest genome coverage achieved using the TSC on the MinION. TSC also improved the genome coverage and sequencing depth in clinically relevant viruses in the animal samples, such as influenza A virus. However, SMg was shown to be adequate for characterizing a highly diverse animal virome. TSC on the MinION was comparable to the NextSeq and can provide a valuable alternative, offering longer reads, portability and lower initial cost. Developing new viral enrichment approaches to detect and characterize significant human and animal viruses is essential for the One Health Initiative.


BMC Genomics ◽  
2014 ◽  
Vol 15 (1) ◽  
pp. 973 ◽  
Author(s):  
Thibaud Dugat ◽  
Valentin Loux ◽  
Sylvain Marthey ◽  
Marco Moroldo ◽  
Anne-Claire Lagrée ◽  
...  

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