scholarly journals Rapid whole-genome sequencing identifies a homozygous novel variant, His540Arg, in HSD17B4 resulting in D-bifunctional protein deficiency disorder diagnosis

2020 ◽  
Vol 6 (6) ◽  
pp. a005496
Author(s):  
Lane Savage ◽  
Stacie D. Adams ◽  
Kiely James ◽  
Shimul Chowdhury ◽  
Surender Rajasekaran ◽  
...  
Keyword(s):  
Whole Genome Sequencing ◽  
Genome Sequencing ◽  
Protein Deficiency ◽  
Whole Genome ◽  
Bifunctional Protein ◽  
Novel Variant

scholarly journals Diagnosis of D-Bifunctional Protein Deficiency through Whole-Genome Sequencing: Implications for Cost-Effective Care

2015 ◽  
Vol 6 (3) ◽  
pp. 141-146 ◽  
Author(s):  
Alina Khromykh ◽  
Benjamin D. Solomon ◽  
Dale L. Bodian ◽  
Eyby L. Leon ◽  
Ramaswamy K. Iyer ◽  
...  
Keyword(s):  
Whole Genome Sequencing ◽  
Genome Sequencing ◽  
Cost Effective ◽  
Protein Deficiency ◽  
Whole Genome ◽  
Bifunctional Protein ◽  
Effective Care

scholarly journals A Staphylococcus xylosus Isolate with a NewmecCAllotype

2012 ◽  
Vol 57 (3) ◽  
pp. 1524-1528 ◽  
Author(s):  
Ewan M. Harrison ◽  
Gavin K. Paterson ◽  
Matthew T. G. Holden ◽  
Fiona J. E. Morgan ◽  
Anders Rhod Larsen ◽  
...  
Keyword(s):  
Staphylococcus Aureus ◽  
Whole Genome Sequencing ◽  
Genome Sequencing ◽  
Whole Genome ◽  
Content Type ◽  
Staphylococcus Xylosus ◽  
Novel Variant ◽  
Staphylococcal Cassette Chromosome ◽  
Class E

ABSTRACTRecently, a novel variant ofmecAknown asmecC(mecALGA251) was identified inStaphylococcus aureusisolates from both humans and animals. In this study, we identified aStaphylococcus xylosusisolate that harbors a new allotype of themecCgene,mecC1. Whole-genome sequencing revealed thatmecC1forms part of a class Emeccomplex (mecI-mecR1-mecC1-blaZ) located at theorfXlocus as part of a likely staphylococcal cassette chromosomemecelement (SCCmec) remnant, which also contains a number of other genes present on the type XI SCCmec.

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

Evaluation of Whole Genome Sequencing for outbreak detection of Salmonella enterica serovar Enteritidis

2020 ◽  
Author(s):  
Ainhoa Arrieta-Gisasola ◽  
Aitor Atxaerandio Landa ◽  
Javier Garaizar ◽  
Joseba Bikandi ◽  
José Karkamo ◽  
...  
Keyword(s):  
Whole Genome Sequencing ◽  
Genome Sequencing ◽  
Salmonella Enterica ◽  
Outbreak Detection ◽  
Whole Genome ◽  
Salmonella Enterica Serovar Enteritidis
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