gene panel
Detection of aberrant methylation of a six-gene panel in serum DNA for diagnosis of breast cancer
... six-gene panel in the breast cancer patients of the test set was further analyzed for association with known clinicopathologic characteristics of breast cancer, including age at diagnosis, family history of ...
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Diagnostic yield and clinical utility of a comprehensive gene panel for hereditary tumor syndromes
... present gene panel included a limited number of causal genes for a circumscribed phenotype (HTS), the overall likelihood of predictive information was expected to be ...altered gene did not overlap ...
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<p>Assessment of tumor mutation burden calculation from gene panel sequencing data</p>
... and panel sequencing are used to calculate TMB, with various approaches to fi lter somatic ...use panel sequencing to estimate ...covered, gene panel sequences can identify rare somatic ...
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Increased diagnostic yield by reanalysis of data from a hearing loss gene panel
... targeted gene panel data from congenital/pre- lingual hearing loss ...targeted gene panels, reanalysis of such data is still bene- ficial due to the improvements in variant ...
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Improving diagnosis of inherited peripheral neuropathies through gene panel analysis
... custom gene panel of all known genes associated with ...consecutive panel designs were prepared according to recent literature search, the last one covering ninety-three ...
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Gene panel sequencing in Brazilian patients with retinitis pigmentosa
... Variations in some complicated genes wasn’t acces- sible due to highly repetitive sequence of single nucleo- tide or blocks. This prevented the range of 100% coverage of all coding regions of the genes in this 132 ...
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How common are single gene mutations as a cause for lacunar stroke?A targeted gene panel study
... The FOXC1 gene encodes the Forkhead box C1 transcription factor. Autosomal dominant missense, nonsense, and frame- shift variants, as well as deletion or duplication of the locus (6p25), have been associated with ...
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1 A Customized NGS-Based Resequencing Gene Panel
... Patient’s number Chromosome Gene Inheritance pattern Mutation Variant Protein Genotype Reference 1 6 TREM2 Autosomal recessive Splicing c.482+2T>C - Homozygous Paloneva, et al. 2002 [16] 2 6 TREM2 Autosomal ...
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The use of salivary biomarkers in the detection of oral squamous cell carcinoma
... There is a need to diagnose oral cancer early to improve prognosis and survival. Earlier in the history of molecular biomarker research it was felt that more good quality studies are required on the molecular ...
252
PubMedCentral-PMC5266624.pdf
... We did not observe associations between the ANM genetic risk score and POAG, even when we considered the extremes of the score. Furthermore, none of the gene variants in the ANM panel were even marginally ...
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Exome sequencing in routine diagnostics: a generic test for 254 patients with primary immunodeficiencies
... the gene panel analysis, a bioinformatic in silico filter was applied to select for variants affecting the known > 300 PID genes ...This gene panel consisted of 263 estab- lished (OMIM) PID ...
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Refractory myeloid sarcoma with a FIP1L1-PDGFRA rearrangement detected by clinical high throughput somatic sequencing
... of gene panel testing for somatic changes expands, this scenario of unanticipated findings dramatically affecting a patient’s clinical course is bound to be repeated to the benefit of cancer ...
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Child Neurology: Siblings with infantile epilepsy and developmental delayA circuitous path to genomic diagnosis
... epilepsy gene panel (Greenwood Genetics, epilepsy/seizure panel, 145 genes) done in 2015 showed heterozygosity for missense variants of uncertain significance (VUS) in SZT2, PTCH1, and ...
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Clinical evaluation of panel testing by next-generation sequencing (NGS) for gene mutations in myeloid neoplasms
... myeloid gene panel targets 54 genes (full coding exons of 15 genes: BCOR , BCORL1 , CDKN2A , CEBPA , CUX1 , DNMT3A , ETV6 / TEL , EZH2 , KDM6A , IKZF1 , PHF6 , RAD21 , RUNX1 / AML1 , STAG2 and ZRSR2 , and ...
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rcmb.2003-0338rc.pdf
... To determine if any of these variants could be patho- genic, a population study was performed in individuals with- out PCD (Table 2). Four of these variants were found to be present in individuals without PCD, with ...
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Complete gene expression profiling of Saccharopolyspora erythraea using GeneChip DNA microarrays
... data. The division of the S. erythraea chromosome in core and non-core regions, as indicated by our transcriptional profiling, is perfectly consistent with the assignment made on the basis of sequence annotation [15]. ...
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Developing an Evolutionary Algorithm to Search for an Optimal Multi Mother Wavelet Packets Combination
... The goal of utilizing the subset selection GA was to identify the minimal subset of features capable of accurately estimating the NICOM reported SVs. The NICOM provides thirty-second averages of SV and so we performed ...
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Long-term treatment with metformin in the prevention of fatty liver in Zucker diabetic fatty rats
... the manufacturer’s instructions. Total RNA prepared from individual animals was pooled together using equal amount of total RNA from individual animals in each group. The total RNA samples were sent to Li Ka Shing ...
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Long non-coding RNAs identify a subset of luminal muscle-invasive bladder cancer patients with favorable prognosis
... of gene sets that were created by differential gene expression analyses (median FC < − ...final gene set included 65 genes after removing highly abundant mitochondrial transcripts (seven genes) ...
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Septin 9 isoform expression, localization and epigenetic changes during human and mouse breast cancer progression
... Nine bacterial artificial chromosome (BAC) clones map- ping to SEPT9, HER2 and CEP17 were obtained from the BACPAC Resources Center (Children ’ s Hospital Oakland Research Institute, Oakland, CA, USA). Clones and their ...
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