Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Utility of clinical high-depth next generation sequencing for somatic variant detection in the PIK3CA-related overgrowth spectrum.

Clinical genetics - 1 Jan 2017

Hucthagowder V, Shenoy A, Corliss M, Vigh-Conrad K A, Storer C, Grange D K, Cottrell C E

Abstract excerpt

Next-generation sequencing (NGS) has revolutionized the approach of studying sequence variation, and has been well described in the clinical laboratory setting for the detection of constitutional alterations, as well as somatic tumor-associated variants. It is increasingly recognized that post-zygotic somatic alteration can be associated with congenital phenotypic abnormalities. Variation within the PI3K/AKT/mTOR...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Class I Phosphatidylinositol 3-Kinases
Share to Cohort Studies

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Genetic Testing

Share to Growth Disorders

Share to High-Throughput Nucleotide Sequencing

Share to Phosphatidylinositol 3-Kinases

Share to Reproducibility of Results

Share to Sensitivity and Specificity

Source

Identifiers

PMID: 27307077
DOI: 10.1111/cge.12819

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Utility of clinical high-depth next generation sequencing for somatic variant detection in the PIK3CA-related overgrowth spectrum.PMID 27307077Read ↗

Molecular Diagnosis of Mosaic Overgrowth Syndromes Using a Custom-Designed Next-Generation Sequencing Panel.Semantic proximity Read ↗

Molecular characterization of 13 patients with PIK3CA-related overgrowth spectrum using a targeted deep sequencing approach.Semantic proximity Read ↗

Molecular diagnosis of PIK3CA-related overgrowth spectrum (PROS) in 162 patients and recommendations for genetic testing.Semantic proximity Read ↗

Current Status of Genetic Testing and Mosaic Variant Assessment in Somatic Overgrowth and Vascular Anomalies: Insights from the Cancer Genomics Consortium Working GroupSemantic proximity Read ↗

PIK3CA-associated developmental disorders exhibit distinct classes of mutations with variable expression and tissue distribution.Semantic proximity Read ↗

Molecular diagnosis of somatic overgrowth conditions: A single‐center experienceSemantic proximity Read ↗

PIK3CA-related overgrowth spectrum (PROS): diagnostic and testing eligibility criteria, differential diagnosis, and evaluation.Semantic proximity Read ↗

Work-Up and Treatment Strategies for Individuals with PIK3CA-Related Disorders: A Consensus of Experts from the Scientific Committee of the Italian Macrodactyly and PROS Association.Semantic proximity Read ↗

Genotypes and phenotypes heterogeneity in PIK3CA-related overgrowth spectrum and overlapping conditions: 150 novel patients and systematic review of 1007 patients with PIK3CA pathogenetic variants.Semantic proximity Read ↗

Updates on Diagnosis and Treatment of PIK3CA-Related Overgrowth Spectrum.Semantic proximity Read ↗

Targeted next-generation sequencing for detection of PIK3CA mutations in archival tissues from patients with Klippel–Trenaunay syndrome in an Asian populationSemantic proximity Read ↗

Phenotypic and molecular characterization of five patients with PIK3CA-related overgrowth spectrum (PROS).Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.