scholarly journals Parental experiences of rapid exome sequencing in cases with major ultrasound anomalies during pregnancy

2021 ◽  
Author(s):  
Mirjam Plantinga ◽  
Lauren Zwienenberg ◽  
Eva Dijk ◽  
Hanna Breet ◽  
Janouk Diphoorn ◽  
...  
Keyword(s):  
Exome Sequencing ◽  
Parental Experiences

scholarly journals Parental experiences of prenatal whole exome sequencing (WES) in cases of ultrasound diagnosed fetal structural anomaly

2017 ◽  
Vol 37 (12) ◽  
pp. 1225-1231 ◽  
Author(s):  
Elizabeth Quinlan-Jones ◽  
Sarah C. Hillman ◽  
Mark D. Kilby ◽  
Sheila M. Greenfield
Keyword(s):  
Exome Sequencing ◽  
Whole Exome Sequencing ◽  
Structural Anomaly ◽  
Parental Experiences ◽  
Whole Exome

Exome sequencing takes centre stage in cancer profiling

Nature ◽  
2009 ◽  
Author(s):  
Brendan Maher
Keyword(s):  
Exome Sequencing

Molecular diagnosis in mitochondrial respiratory chain deficiency using exome sequencing

2013 ◽  
Vol 44 (02) ◽  
Author(s):  
R Kopajtich ◽  
T Haack ◽  
B Haberberger ◽  
J Mayr ◽  
W Sperl ◽  
...  
Keyword(s):  
Exome Sequencing ◽  
Respiratory Chain ◽  
Molecular Diagnosis ◽  
Mitochondrial Respiratory Chain ◽  
Respiratory Chain Deficiency ◽  
Mitochondrial Respiratory

Whole Exome Sequencing (WES) in Familien mit linksventrikulärer Ausfluβtraktobstruktion (LVOTO)

2014 ◽  
Vol 62 (S 02) ◽  
Author(s):  
M. Hitz ◽  
S. Al-Turki ◽  
A. Schalinski ◽  
U. Bauer ◽  
T. Pickardt ◽  
...  
Keyword(s):  
Exome Sequencing ◽  
Whole Exome Sequencing ◽  
Whole Exome

Identification of Novel Germline and Tumor-Specific Nucleotide Variants and Copy Number Variation in Clival Chordomas by Exome Sequencing

2015 ◽  
Vol 76 (S 01) ◽  
Author(s):  
Georgios Zenonos ◽  
Peter Howard ◽  
Maureen Lyons-Weiler ◽  
Wang Eric ◽  
William LaFambroise ◽  
...  
Keyword(s):  
Copy Number Variation ◽  
Exome Sequencing ◽  
Copy Number ◽  
Number Variation ◽  
Specific Nucleotide

Exome sequencing and case-control analyses identify RCC1 as a candidate breast cancer susceptibility gene

2018 ◽  
Author(s):  
A Riahi ◽  
H Radmanesh ◽  
P Schürmann ◽  
N Bogdanova ◽  
R Geffers ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Exome Sequencing ◽  
Cancer Susceptibility ◽  
Susceptibility Gene ◽  
Breast Cancer Susceptibility ◽  
Case Control ◽  
Breast Cancer Susceptibility Gene ◽  
Cancer Susceptibility Gene

FV 1031. Whole Exome Sequencing for Children with Dyskinetic Movement Disorder

2018 ◽  
Author(s):  
Yasemin Dincer ◽  
Michael Zech ◽  
Matias Wagner ◽  
Nikolai Jung ◽  
Volker Mall ◽  
...  
Keyword(s):  
Movement Disorder ◽  
Exome Sequencing ◽  
Whole Exome Sequencing ◽  
Whole Exome ◽  
Dyskinetic Movement

Exome sequencing identified QRICH2 as a candidate gene responsible for stump-tailed sperm defects in Chinese consanguineous male offspring

2014 ◽  
Author(s):  
Huanxun Yue ◽  
Dan Sun ◽  
Huaqin Sun ◽  
Wenming Xu
Keyword(s):  
Candidate Gene ◽  
Exome Sequencing ◽  
Male Offspring

An audit and insights from clinical exome sequencing in psychiatry: genotype-phenotype correlation

2020 ◽  
Author(s):  
Jayant Mahadevan ◽  
Reeteka Sud ◽  
Ravi Kumar Nadella ◽  
Vani P ◽  
Anand G Subramaniam ◽  
...  
Keyword(s):  
Exome Sequencing ◽  
Psychiatric Symptoms ◽  
Pathogenic Variant ◽  
Clinical Exome Sequencing ◽  
Mapt Gene ◽  
Nf1 Gene ◽  
Novel Variant ◽  
History Of ◽  
Atypical Presentations ◽  
Minor Physical Anomalies

BACKGROUND:Psychiatric syndromes have polymorphic symptomatology, and are known to be heritable. Psychiatric symptoms (and even syndromes) often occur as part of the clinical presentation in rare Mendelian syndromes. Clinical exome sequencing reports may help with refining diagnosis and influence treatment decisions, in addition to providing a window into the biology of brain and behaviour. We describe a clinical audit of 12 individuals who sought treatment at our hospital, and for whom targeted sequencing was ordered. Three cases are discussed in detail to demonstrate correlations between genotype and phenotype in the clinic.METHODS:Targeted Next-Generation Sequencing (NGS) was done using Clinical Exome Panel (TruSight One, Illumina) covering coding exons and flanking intronic sequences of 4811 genes associated with known inherited diseases. Variants detected were classified according to the American College for Medical Genetics (ACMG) recommendation for standards of interpretation and reporting of sequence variations.RESULTS:Ten out of twelve cases had at least one pathogenic variant. In one of these cases, we detected a known pathogenic variant in MAPT gene in a suspected FTD case, which helped us to confirm the diagnosis. In another case, we detected a novel variant predicted to be deleterious in NF1 gene. Identification of this mutation suggested a change in treatment for the patient, that was of benefit. The same patient also harboured a novel variant in the TRIO gene. This gene may be involved in biological processes that underlie the patient’s psychiatric illness.CONCLUSIONS:The cases discussed here exemplify different scenarios under which targeted exome sequencing can find meaningful application in the clinic: confirming diagnosis (MAPT variant), or modifying treatment (NF1). We suggest that clinical exome sequencing can be a helpful addition to a clinician’s toolkit when there are expediting factors to consider— such as early-onset, strong family history of mental illness, complex/atypical presentations and minor physical anomalies or neurocutaneous markers.

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