A COMPREHENSIVE MULTIPLEX PCR BASED EXOME-SEQUENCING ASSAY FOR RAPID BLOODSPOT CONFIRMATION OF INBORN ERRORS OF METABOLISM

A comprehensive multiplex PCR based exome-sequencing assay for rapid bloodspot confirmation of inborn errors of metabolism

Abstract Background Tandem mass spectrometry (MS MS) and simple fluorometric assays are currently used in newborn screening programs to detect inborn errors of metabolism (IEM).The aim of the study was to evaluate the clinical utility of exome sequencing as a second tier screening method to assist clinical diagnosis of the newborn.Methods A House n

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Resilience of Interurban Public Transport and Impact of COVID-19 on Rural Connectivity in Sparsely Populated Regions

The aim of this research consisted of assessing the effects of the COVID-19 pandemic on the interurban public transport system in a rural region with a sparse population density, considering the Canteens number of tickets sold and passengers in each locality, as well as the different connecting lines.From a methodological point of view and with the

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Biomonitoring for traditional herbal medicinal products using DNA metabarcoding and single molecule, real-time sequencing

Global concerns have been paid to the potential hazard of traditional herbal medicinal products (THMPs).Substandard and copyright THMPs, including traditional Chinese patent medicine, health foods, dietary supplements, etc.are potential threats to public health.Recent marketplace studies using DNA barcoding have determined that the current quality

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Remaining Useful Life for Heavy-Duty Railway Cast Steel Knuckles Based on Crack Growth Behavior with Hypothetical Distributions

Abstract The current research on the integrity of critical structures of rail vehicles mainly focuses on the design stage, which needs an effective method for assessing the service state.This paper proposes a framework for predicting the remaining useful life (RUL) of in-service structures with and without visible cracks.The hypothetical distributi

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Transcriptome Profiling Reveals a Petunia Transcription Factor, PhCOL4, Contributing to Antiviral RNA Silencing

RNA silencing is a common antiviral mechanism in eukaryotic organisms.However, the transcriptional regulatory mechanism that controls the RNA silencing process remains elusive.Here, we performed high-depth transcriptome analysis on petunia (Petunia hybrida) Spaghetti Lifter leaves infected with tobacco rattle virus (TRV) strain PPK20.A total of 7,4

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