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Utility of clinical high-depth next generation sequencing for somatic variant detection in the PIK3CA-related overgrowth spectrum
V. Hucthagowder
, A. Shenoy
, M. Corliss
, K. A. Vigh-Conrad
, C. Storer
,
D. K. Grange
, C. E. Cottrell
Center for the Investigation of Membrane Excitability Diseases
Institute of Clinical and Translational Sciences (ICTS)
Division of Genetics and Genomic Medicine
Research output
:
Contribution to journal
›
Article
›
peer-review
36
Scopus citations
Overview
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Dive into the research topics of 'Utility of clinical high-depth next generation sequencing for somatic variant detection in the PIK3CA-related overgrowth spectrum'. Together they form a unique fingerprint.
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Keyphrases
Clinical Laboratory
25%
Clinical Testing
25%
Coding Region
25%
Coverage-dependent
25%
Diagnostic Performance
25%
Highly Sensitive
25%
Hybrid Capture
25%
Laboratory Setting
25%
Next-generation Sequencing
100%
Overgrowth Syndrome
25%
Phenotypic Abnormalities
25%
Phenotypic Characteristics
25%
PI3K-AKT-mTOR Pathway
25%
PIK3CA
100%
PIK3CA-related Overgrowth Spectrum
100%
Postzygotic
25%
Read Depth
50%
Sequence Variation
25%
Somatic Alterations
50%
Somatic Overgrowth
25%
Somatic Variant Detection
100%
Somatic Variation
25%
Spectrum Disorder
25%
Tumor-associated
25%
Variant Allele Frequency
50%
Vascular Malformation
25%
Biochemistry, Genetics and Molecular Biology
Coding Region
33%
Gene Frequency
66%
Next Generation Sequencing
100%
PI3K/AKT/mTOR Pathway
33%