Low-frequency variants
Enhancing the Power to Detect Low-Frequency Variants in Genome-Wide Screens
... detecting low-frequency variants, in particular when the sample size is small (Figure 1 and Fig- ure 2); its gain in power diminishes as the sample size ...for low-frequency ...
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Functional rare and low frequency variants in BLK and BANK1 contribute to human lupus
... and low-frequency variants in systemic ...rare variants in BLK and BANK1 in healthy controls and patients with ...BLK variants found in SLE patients impaired the kinase activity of ...
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NARD: whole-genome reference panel of 1779 Northeast Asians improves imputation accuracy of rare and low-frequency variants
... with low variant count and an abnormal ratio of heterozygous to homozygous genotypes (Het/Hom) were discarded in the subsequent analysis (Additional file 1: Figure ...of variants: single nu- cleotide ...
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Exome Chip Analysis Identifies Low-Frequency and Rare Variants in MRPL38 for White Matter Hyperintensities on Brain Magnetic Resonance Imaging
... two low-frequency variants in MRPL38, rs34136221 and rs9191, are in complete LD with each ...these low-frequency variants contributed primarily to the significance of the ...
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The impact of rare and low frequency genetic variants in common disease
... rare variants, enabled by decreases in sequencing costs and increases in sequencing throughput ...to variants in protein-coding regions of the ...of low- frequency and common variants ...
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Identification of low frequency TRAF3IP2 coding variants in psoriatic arthritis patients and functional characterization
... disease, low-frequency variants have been identified as protective factors, and their effects turned out to be larger than those of common variants and accounted for a greater portion of ...
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An integrated map of genetic variation.pdf
... of low-coverage whole-genome and exome ...common variants, and that low-frequency variants show substantial geographic differentiation, which is further increased by the action of ...
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NaV channel variants in patients with painful and nonpainful peripheral neuropathy
... genetic variants in the PNRR ...1000 variants in each gene, with most (79% – 87%) occurring in intronic regions (table e- ...protein-coding variants we identi- fied were nonsynonymous, missense ...
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De novo mutations implicate novel genes in systemic lupus erythematosus.
... A recent study, however, with an extremely large sample size, identified rare and low frequency variants contributing to the genetic variance of adult human height 4—a polygenic trait wi[r] ...
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Identification of low frequency and rare variants for hypertension using sparse data methods
... rare, low-frequency, and common functional variant, respectively; the tests are the standard likelihood ratio test (LRT), penalized likelihood ratio test (PLRT), standard score test (Score) and ...
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Targeted exon sequencing fails to identify rare coding variants with large effect in rheumatoid arthritis
... rare variants. With advances in NGS technol- ogy, the role of rare or low-frequency variants in many complex diseases like RA can be investigated to better characterize the genetic ...
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Pulsed low frequency magnetic field on obese subjects
... Then the subjects cycle at 30 W for warming up, and then the intensity increased every 60 seconds by 15 W until exhaustion, then the subjects cycle at 30 W for cooling down and the duration of the treatment 30 minutes ...
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Drum Brake Backplate Analysis And Design Modification to Control Squeal Noise
... _______________________________________________________________________________________________________ Abstract—The stringent competition in automobile market of passenger vehicle segment exists on account of With ...
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A. Low Frequency RFID
... Radio Frequency Identification (RFID) technology is an emerging technology for a broad spectrum of applications including managing goods, tracking the movement of tools, equipment, people, animals or even ...
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Activation of the SOS response increases the frequency of small colony variants
... a dysfunctional electron transport chain [3, 4]. Depend- ing on the pathways inactivated, antibiotic resistance to different classes of antimicrobial agents may occur [5]. Mutations in thyA confer ...
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Integrated nonlinear modelling of floating wind turbine
... iii Low-frequency resonance response caused by the difference in sideband frequency components for low loaded wind turbine A significant low-frequency resonance response of a TLPWT predi[r] ...
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Pulsed low frequency magnetic field on obese subjects
... Shinji Harakawa., Shirley M Herbas., Yoshiko Y Hiroshi Suzuki.: Effect of 50 Hz electric field in diacylglycerolacyltransferase mRNA expression level and plasma concentration of triacylglycerol, free fatty acid, ...
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Evaluating the Frequency of Clinical and Microscopic Views of Basal Cell Carcinoma in a 10-Year Period
... Background and aim: Basal Cell Carcinoma (BCC) is the most common skin neo- plasm and the most common type of cancer. Since the incidence of injury is taken into consideration in the pathologic diagnosis, the study of ...
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A new tool for prioritization of sequence variants from whole exome sequencing data
... of variants per sequenced individual; the gen- eration of data for analysis is therefore not considered to be the challenge with WES or NGS, but rather the way in which data is analysed is proving to be the major ...
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Evaluating anthracycline cardiotoxicity associated single nucleotide polymorphisms in a paediatric cohort with early onset cardiomyopathy
... Methods: Here we screened for the presence of SNPs resulting in a missense coding change in a cohort of children with early onset chemotherapy related cardiomyopathy. The SNP identity was evaluated by Sanger sequencing ...
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