scholarly journals SARS-CoV-2 in Hospital Air as Revealed by Comprehensive Respiratory Viral Panel Sequencing

2021 ◽  
pp. 100199
Author(s):  
Nazima Habibi ◽  
Saif Uddin ◽  
Montaha Behbehani ◽  
Nasreem Abdul Razzack ◽  
Farhana Zakir ◽  
...  
Keyword(s):  
Panel Sequencing

scholarly journals Genetic Analysis of a Cohort of 275 Patients with Hyper-IgE Syndromes and/or Chronic Mucocutaneous Candidiasis

2021 ◽  
Author(s):  
Natalie Frede ◽  
Jessica Rojas-Restrepo ◽  
Andrés Caballero Garcia de Oteyza ◽  
Mary Buchta ◽  
Katrin Hübscher ◽  
...  
Keyword(s):  
Screening Method ◽  
Cost Effective ◽  
Illumina Miseq ◽  
Clinical Findings ◽  
Genetic Defects ◽  
Chronic Mucocutaneous Candidiasis ◽  
Mucocutaneous Candidiasis ◽  
Serious Infections ◽  
History Of ◽  
Panel Sequencing

AbstractHyper-IgE syndromes and chronic mucocutaneous candidiasis constitute rare primary immunodeficiency syndromes with an overlapping clinical phenotype. In recent years, a growing number of underlying genetic defects have been identified. To characterize the underlying genetic defects in a large international cohort of 275 patients, of whom 211 had been clinically diagnosed with hyper-IgE syndrome and 64 with chronic mucocutaneous candidiasis, targeted panel sequencing was performed, relying on Agilent HaloPlex and Illumina MiSeq technologies. The targeted panel sequencing approach allowed us to identify 87 (32 novel and 55 previously described) mutations in 78 patients, which generated a diagnostic success rate of 28.4%. Specifically, mutations in DOCK8 (26 patients), STAT3 (21), STAT1 (15), CARD9 (6), AIRE (3), IL17RA (2), SPINK5 (3), ZNF341 (2), CARMIL2/RLTPR (1), IL12RB1 (1), and WAS (1) have been detected. The most common clinical findings in this cohort were elevated IgE (81.5%), eczema (71.7%), and eosinophilia (62.9%). Regarding infections, 54.7% of patients had a history of radiologically proven pneumonia, and 28.3% have had other serious infections. History of fungal infection was noted in 53% of cases and skin abscesses in 52.9%. Skeletal or dental abnormalities were observed in 46.2% of patients with a characteristic face being the most commonly reported feature (23.1%), followed by retained primary teeth in 18.9% of patients. Targeted panel sequencing provides a cost-effective first-line genetic screening method which allows for the identification of mutations also in patients with atypical clinical presentations and should be routinely implemented in referral centers.

scholarly journals Matrilineal analysis of mutations in the DMD gene in a multigenerational South Indian cohort using DMD gene panel sequencing

2021 ◽  
Author(s):  
Arun Shastry ◽  
Sankaramoorthy Aravind ◽  
Meeta Sunil ◽  
Keerthi Ramesh ◽  
Berty Ashley ◽  
...  
Keyword(s):  
Gene Panel ◽  
South Indian ◽  
Dmd Gene ◽  
Gene Panel Sequencing ◽  
Panel Sequencing

scholarly journals PATH-11. PROSPECTIVE (EPI-)GENETIC CLASSIFICATION OF > 1,000 PEDIATRIC CNS TUMORS—THE MNP 2.0 STUDY

2020 ◽  
Vol 22 (Supplement_3) ◽  
pp. iii426-iii426
Author(s):  
Dominik Sturm ◽  
Felix Sahm ◽  
Felipe Andreiuolo ◽  
David Capper ◽  
Marco Gessi ◽  
...  
Keyword(s):  
Dna Methylation ◽  
Gene Panel ◽  
Cns Tumors ◽  
Lower Grade ◽  
High Grade ◽  
Sequencing Data ◽  
Cns Tumor ◽  
Gene Panel Sequencing ◽  
Tumor Entities ◽  
Panel Sequencing

Abstract The large variety of CNS tumor entities affecting children and adolescents, some of which are exceedingly rare, results in very diverging patient outcomes and renders accurate diagnosis challenging. To assess the diagnostic utility of routine DNA methylation-based CNS tumor classification and gene panel sequencing, the Molecular Neuropathology 2.0 study prospectively integrated these (epi-)genetic analyses with reference neuropathological diagnostics as an international trial for newly-diagnosed pediatric patients. In a four-year period, 1,215 patients with sufficient tissue were enrolled from 65 centers, receiving a reference neuropathological diagnosis according to the WHO classification in >97%. Using 10 FFPE sections as input, DNA methylation analysis was successfully performed in 95% of cases, of which 78% with sufficient tumor cell content were assigned to a distinct epigenetic tumor class. The remaining 22% did not match any of 82 represented classes, indicating novel rare tumor entities. Targeted gene panel sequencing of >130 genes performed for 96% of patients with matched blood samples detected diagnostically, prognostically, or therapeutically relevant somatic alterations in 48%. Germline DNA sequencing data indicated potential predisposition syndromes in ~10% of patients. Discrepant results by neuropathological and epigenetic classification (29%) were enriched in histological high-grade gliomas and implicated clinical relevance in 5% of all cases. Clinical follow-up suggests improved survival for some patients with high-grade glioma histology and lower-grade molecular profiles. Routine (epi-)genetic profiling at the time of primary diagnosis adds a valuable layer of information to neuropathological diagnostics and will improve clinical management of CNS tumors.

scholarly journals Characterization of intellectual disability and autism comorbidity through gene panel sequencing

2019 ◽  
Vol 40 (9) ◽  
pp. 1346-1363 ◽  
Author(s):  
Maria C. Aspromonte ◽  
Mariagrazia Bellini ◽  
Alessandra Gasparini ◽  
Marco Carraro ◽  
Elisa Bettella ◽  
...  
Keyword(s):  
Intellectual Disability ◽  
Gene Panel ◽  
Gene Panel Sequencing ◽  
Panel Sequencing

scholarly journals Gene-Panel Sequencing and the Prediction of Breast-Cancer Risk

2015 ◽  
Vol 372 (23) ◽  
pp. 2243-2257 ◽  
Author(s):  
Douglas F. Easton ◽  
Paul D.P. Pharoah ◽  
Antonis C. Antoniou ◽  
Marc Tischkowitz ◽  
Sean V. Tavtigian ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Breast Cancer Risk ◽  
Cancer Risk ◽  
Gene Panel ◽  
Gene Panel Sequencing ◽  
Panel Sequencing

scholarly journals Clinical and Genetic Analysis of a European Cohort with Pericentral Retinitis Pigmentosa

2019 ◽  
Vol 21 (1) ◽  
pp. 86 ◽  
Author(s):  
Marianthi Karali ◽  
Francesco Testa ◽  
Raffaella Brunetti-Pierri ◽  
Valentina Di Iorio ◽  
Mariateresa Pizzo ◽  
...  
Keyword(s):  
Genetic Analysis ◽  
Retinitis Pigmentosa ◽  
Ophthalmological Examination ◽  
Mild Phenotype ◽  
Atypical Form ◽  
Pathogenic Variants ◽  
Wide Range ◽  
Independent Families ◽  
Gene Panel Sequencing ◽  
Panel Sequencing

Retinitis pigmentosa (RP) is a clinically heterogenous disease that comprises a wide range of phenotypic and genetic subtypes. Pericentral RP is an atypical form of RP characterized by bone-spicule pigmentation and/or atrophy confined in the near mid-periphery of the retina. In contrast to classic RP, the far periphery is better preserved in pericentral RP. The aim of this study was to perform the first detailed clinical and genetic analysis of a cohort of European subjects with pericentral RP to determine the phenotypic features and the genetic bases of the disease. A total of 54 subjects from 48 independent families with pericentral RP, non-syndromic and syndromic, were evaluated through a full ophthalmological examination and underwent clinical exome or retinopathy gene panel sequencing. Disease-causative variants were identified in 22 of the 35 families (63%) in 10 different genes, four of which are also responsible for syndromic RP. Thirteen of the 34 likely pathogenic variants were novel. Intra-familiar variability was also observed. The current study confirms the mild phenotype of pericentral RP and extends the spectrum of genes associated with this condition.

scholarly journals SPG11 Mutation in Hereditary Spastic Paraplegia with Thin Corpus Callosum Diagnosed by Targeted Gene Panel Sequencing

2020 ◽  
Vol 38 (4) ◽  
pp. 359-361
Author(s):  
Haelim Kim ◽  
Young Gi Min ◽  
Sang Bin Hong ◽  
Man-Jin Kim ◽  
Moon-Woo Seong ◽  
...  
Keyword(s):  
Corpus Callosum ◽  
Hereditary Spastic Paraplegia ◽  
Gene Panel ◽  
Spastic Paraplegia ◽  
Thin Corpus Callosum ◽  
Gene Panel Sequencing ◽  
Panel Sequencing

scholarly journals Assessment of tumor mutation burden calculation from gene panel sequencing data

2019 ◽  
Vol Volume 12 ◽  
pp. 3401-3409 ◽  
Author(s):  
Zhenwu Xu ◽  
Jiawei Dai ◽  
Dandan Wang ◽  
Hui Lu ◽  
Heng Dai ◽  
...  
Keyword(s):  
Gene Panel ◽  
Sequencing Data ◽  
Tumor Mutation Burden ◽  
Mutation Burden ◽  
Gene Panel Sequencing ◽  
Panel Sequencing

Targeted panel sequencing establishes the implication of planar cell polarity pathway and involves new candidate genes in neural tube defect disorders

2019 ◽  
Vol 138 (4) ◽  
pp. 363-374 ◽  
Author(s):  
Marie Beaumont ◽  
Linda Akloul ◽  
Wilfrid Carré ◽  
Chloé Quélin ◽  
Hubert Journel ◽  
...  
Keyword(s):  
Candidate Genes ◽  
Cell Polarity ◽  
Neural Tube ◽  
Neural Tube Defect ◽  
Planar Cell Polarity ◽  
Planar Cell Polarity Pathway ◽  
Panel Sequencing
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