scholarly journals Rapid whole-genome sequencing identifies a novel AIRE variant associated with autoimmune polyendocrine syndrome type 1

2018 ◽  
Vol 4 (3) ◽  
pp. a002485 ◽  
Author(s):  
Erica Sanford ◽  
Kelly Watkins ◽  
Shareef Nahas ◽  
Michael Gottschalk ◽  
Nicole G. Coufal ◽  
...  
Keyword(s):  
Whole Genome Sequencing ◽  
Genome Sequencing ◽  
Whole Genome ◽  
Syndrome Type ◽  
Autoimmune Polyendocrine Syndrome

scholarly journals Clinical utility of ultra-rapid whole-genome sequencing in an infant with atypical presentation of WT1-associated nephrotic syndrome type 4

2020 ◽  
Vol 6 (4) ◽  
pp. a005470
Author(s):  
Erica Sanford ◽  
Terence Wong ◽  
Katarzyna A. Ellsworth ◽  
Elizabeth Ingulli ◽  
Stephen F. Kingsmore
Keyword(s):  
Nephrotic Syndrome ◽  
Whole Genome Sequencing ◽  
Genome Sequencing ◽  
Clinical Utility ◽  
Whole Genome ◽  
Atypical Presentation ◽  
Syndrome Type

scholarly journals Whole genome sequencing for mutation discovery in a single case of lysosomal storage disease (MPS type 1) in the dog

2020 ◽  
Vol 10 (1) ◽  
Author(s):  
Tamer A. Mansour ◽  
Kevin D. Woolard ◽  
Karen L. Vernau ◽  
Devin M. Ancona ◽  
Sara M. Thomasy ◽  
...  
Keyword(s):  
Whole Genome Sequencing ◽  
Genome Sequencing ◽  
Lysosomal Storage Disease ◽  
Storage Disease ◽  
Single Case ◽  
Whole Genome ◽  
Lysosomal Storage ◽  
Mutation Discovery

scholarly journals Genotyping of herpes simplex virus type 1 by whole-genome sequencing

2016 ◽  
Vol 97 (10) ◽  
pp. 2732-2741 ◽  
Author(s):  
Florian Pfaff ◽  
Marco Groth ◽  
Andreas Sauerbrei ◽  
Roland Zell
Keyword(s):  
Herpes Simplex Virus ◽  
Herpes Simplex ◽  
Whole Genome Sequencing ◽  
Genome Sequencing ◽  
Virus Type ◽  
Herpes Simplex Virus Type ◽  
Whole Genome ◽  
Simplex Virus

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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