scholarly journals Whole-Genome Sequencing to Characterize Monogenic and Polygenic Contributions in Patients Hospitalized With Early-Onset Myocardial Infarction

Circulation ◽  
2019 ◽  
Vol 139 (13) ◽  
pp. 1593-1602 ◽  
Author(s):  
Amit V. Khera ◽  
Mark Chaffin ◽  
Seyedeh M. Zekavat ◽  
Ryan L. Collins ◽  
Carolina Roselli ◽  
...  
Keyword(s):  
Myocardial Infarction ◽  
Whole Genome Sequencing ◽  
Genome Sequencing ◽  
Early Onset ◽  
Whole Genome

scholarly journals Defining the genetic basis of early onset hereditary spastic paraplegia using whole genome sequencing

Neurogenetics ◽  
2016 ◽  
Vol 17 (4) ◽  
pp. 265-270 ◽  
Author(s):  
Kishore R Kumar ◽  
G.M. Wali ◽  
Mahesh Kamate ◽  
Gautam Wali ◽  
André E Minoche ◽  
...  
Keyword(s):  
Whole Genome Sequencing ◽  
Genome Sequencing ◽  
Hereditary Spastic Paraplegia ◽  
Early Onset ◽  
Genetic Basis ◽  
Whole Genome ◽  
Spastic Paraplegia

scholarly journals Clinical whole-genome sequencing in severe early-onset epilepsy reveals new genes and improves molecular diagnosis

2014 ◽  
Vol 23 (12) ◽  
pp. 3200-3211 ◽  
Author(s):  
H. C. Martin ◽  
G. E. Kim ◽  
A. T. Pagnamenta ◽  
Y. Murakami ◽  
G. L. Carvill ◽  
...  
Keyword(s):  
Whole Genome Sequencing ◽  
Genome Sequencing ◽  
Molecular Diagnosis ◽  
Early Onset ◽  
Whole Genome ◽  
New Genes

scholarly journals P.053 Whole-genome sequencing identified a frameshift mutation at LMNB1 in a family with early-onset dystonia

2019 ◽  
Vol 46 (s1) ◽  
pp. S28
Author(s):  
RK Yuen ◽  
B Adhami-Mojarad ◽  
I Backstrom ◽  
A Yin ◽  
T Soman
Keyword(s):  
Whole Genome Sequencing ◽  
Genome Sequencing ◽  
Early Onset ◽  
Frameshift Mutation ◽  
Age Of Onset ◽  
Pathogenic Mutation ◽  
Whole Genome ◽  
Illumina Hiseq ◽  
Abnormal Movements ◽  
Generalized Dystonia

Background: Dystonia is a hyperkinetic condition that produces abnormal movements or postures. Its diagnostic procedure is often challenging and time consuming. Genetic testing provides an effective approach for diagnosis, but currently only very few dystonia genes have been identified. We propose that studying early-onset forms of dystonia with the use of whole-genome sequencing (WGS) will improve the identification of dystonia-relevant genes and mutations. Methods: We performed deep WGS using the Illumina HiSeq X technology in a mother-proband pair with dystonia. The mother has generalized dystonia (age of onset: 15) and the proband has myoclonic dystonia (age of onset: 11). Results: No pathogenic mutation was identified in any of the known dystonia genes. However, we identified a rare heterozygous frameshift mutation (p.K342fs*7) at LMNB1 that was shared between the mother and the proband. Duplication of LMNB1 is known to cause Adult-onset Demyelinating Leukodystrophy. A heterozygous deletion of LMNB1 has been reported in a patient with microcephaly and global developmental disorder. Conclusions: Further characterization of phenotypes in the participants and their family members is needed to confirm the relationship between mutation in LMNB1 and dystonia. This work provides a proof-of-principle that novel disease-relevant genes can potentially be identified using the proposed approach.

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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