An unprecedented medical diagnostic tool for rare diseases
On August 18th, scientists at the Harvard-MIT Broad Institute published the exon sequences of 60,706 individuals of different ethnicities in Nature. As a member of the Exome Aggregation Consortium (ExAC), researchers have the largest exome resources, and through this large-scale sample analysis, they reveal variability that cannot be detected by small data sets. . Open a new door to explore the pathogenic mutations of rare diseases ExAC is a free, high-resolution catalogue of human genetic variation databases containing tens of millions of DNA variants - many of which are rare variants, and most of which were first discovered, its clinical research on rare genetic diseases and Diagnosis has great significance. Since the liberalization of the scientific community in October 2014, the ExAC database has more than five million online pages, enabling clinicians to provide more accurate genetic diagnosis for thousands of patients with rare diseases. The author of this article, Daniel MacArthur, said, “The success of ExAC is related to data sharing across multiple federations.†Previous resources contained fewer exons and were not racially diverse, so they were not sufficient for the study of rare disease gene mutations. "The size and diversity of the ExAC database is invaluable," he said. "It gives us the ability to discover extremely rare mutations and provides an unprecedented window for exploring the root causes of rare genetic diseases." After collecting tens of thousands of exon raw data from cooperative agencies around the world, the researchers relied on the analytical and computational power of the Broad Institute to generate an unprecedented list of human genetic variants—about every 8 bases. Variants, most of which have never been reported, and are very rare, with a probability of 1/10000. When the patient's genome is mastered, the clinician can compare any rare mutations in the patient to the ExAC database, revealing the "bane" of the disease or disease in the gene or protein. If some of the patient's DNA mutations are extremely rare in the ExAC database, but may hinder the formation of proteins, these mutations are very likely to be the key factors leading to rare diseases. Heidi Rehm, head of the Broad Clinical Research Sequencing Platform, said, "ExAC resources are very helpful in the clinical evaluation of patient gene sequences." In clinical sequencing, many DNA variants are rare or unexplored, so we are not sure about them. Whether it has an impact on the risk of the disease, it is impossible to decide whether to take it into account during diagnosis and treatment. By referring to the frequency of gene mutations in the ExAC database, the researchers ruled out common mutations, which quickly locked in true pathogenic mutations and avoided unnecessary losses from benign variations.
Permanent magnet synchronous motor axial flow pump is a new advanced application of permanent magnet synchronous motor in the field of pump. It has the characteristics of high efficiency, light weight, small volume (only 1 / 4 of the weight of traditional axial flow pump), large flow and convenient movement. Stepless speed regulation, head and flow can be adjusted by adjusting speed.
At the same time, another characteristic of permanent magnet synchronous motor is that the speed does not change with the grid voltage. When the voltage changes, especially when the voltage is low, it can still keep the head flow unchanged, which is not available in the traditional axial flow pump of asynchronous motor.
Axial Flow Pump,Axial Flow Pump for Drainage,Emergency Axial Flow Pump Denilco Environmental technology(Suzhou)Co., Ltd. , https://www.wflood.com