scholarly journals Prenatal diagnosis of chromothripsis, with nine breaks characterized by karyotyping, FISH, microarray and whole-genome sequencing

2015 ◽  
Vol 35 (3) ◽  
pp. 299-301 ◽  
Author(s):  
M. J. Macera ◽  
A. Sobrino ◽  
B. Levy ◽  
V. Jobanputra ◽  
V. Aggarwal ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
Whole Genome Sequencing ◽  
Genome Sequencing ◽  
Whole Genome

scholarly journals Whole Genome Sequencing in the Evaluation of Fetal Structural Anomalies: A Parallel Test with Chromosomal Microarray Plus Whole Exome Sequencing

Genes ◽  
2021 ◽  
Vol 12 (3) ◽  
pp. 376
Author(s):  
Jia Zhou ◽  
Ziying Yang ◽  
Jun Sun ◽  
Lipei Liu ◽  
Xinyao Zhou ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
Whole Genome Sequencing ◽  
Exome Sequencing ◽  
Whole Exome Sequencing ◽  
Genome Sequencing ◽  
Chromosomal Microarray ◽  
Whole Genome ◽  
Significant Information ◽  
Whole Exome ◽  
Structural Anomalies

Whole genome sequencing (WGS) is a powerful tool for postnatal genetic diagnosis, but relevant clinical studies in the field of prenatal diagnosis are limited. The present study aimed to prospectively evaluate the utility of WGS compared with chromosomal microarray (CMA) and whole exome sequencing (WES) in the prenatal diagnosis of fetal structural anomalies. We performed trio WGS (≈40-fold) in parallel with CMA in 111 fetuses with structural or growth anomalies, and sequentially performed WES when CMA was negative (CMA plus WES). In comparison, WGS not only detected all pathogenic genetic variants in 22 diagnosed cases identified by CMA plus WES, yielding a diagnostic rate of 19.8% (22/110), but also provided additional and clinically significant information, including a case of balanced translocations and a case of intrauterine infection, which might not be detectable by CMA or WES. WGS also required less DNA (100 ng) as input and could provide a rapid turnaround time (TAT, 18 ± 6 days) compared with that (31 ± 8 days) of the CMA plus WES. Our results showed that WGS provided more comprehensive and precise genetic information with a rapid TAT and less DNA required than CMA plus WES, which enables it as an alternative prenatal diagnosis test for fetal structural anomalies.

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

1722-P: Colocalization of TOPMed Whole Genome Sequencing Analysis and Tissue-Specific eQTL Signals Detects Target Genes for Type 2 Diabetes Risk

Diabetes ◽  
2019 ◽  
Vol 68 (Supplement 1) ◽  
pp. 1722-P
Author(s):  
MINDY D. SZETO ◽  
HEATHER M. HIGHLAND ◽  
ALISA MANNING ◽  
Keyword(s):  
Type 2 Diabetes ◽  
Whole Genome Sequencing ◽  
Genome Sequencing ◽  
Target Genes ◽  
Diabetes Risk ◽  
Whole Genome ◽  
Sequencing Analysis ◽  
Tissue Specific

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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