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93 results about "Genome wide analysis" patented technology

System for genome analysis and genetic disease diagnosis

The method for genome analysis translates the clinical findings in the patient into a comprehensive test order for genes that can be causative of the patient's illness, delimits analysis of variants identified in the patient's genome to those that are “on target” for the patient's illness, and provides clinical annotation of the likely causative variants for inclusion in a variant warehouse that is updated as a result of each sample that is analyzed and that, in turn, provides a source of additional annotation for variants. The method uses a genome sequence having the steps of entering at least one clinical feature of a patient by an end-user, assigning a weighted value to the term based on the probability of the presence of the term, mapping the term to at least one disease by accessing a knowledge base containing a plurality of data sets, wherein the data sets are made up of associations between (i) clinical features and diseases, (ii) diseases and genes, (iii) genes and genetic variants, and (iv) diseases and gene variants, assigning a truth value to each of the mapped terms based on the associated data sets and the weighted value, to provide a list of results of possible diagnoses prioritized based on the truth values, with continuous adjustment of the weightings of associations in the knowledge base based on updating of each discovered diagnosis and attendant clinical features, genes and gene variants. This method can be performed in fifty hours or twenty-four hours or less.
Owner:CHILDRENS MERCY HOSPITAL

Optimized method for analyzing microbial communities through metagenome binning

ActiveCN111933218AAssembly targetedAssembly targetingSequence analysisInstrumentsMicroorganismBiocoenosis
The invention discloses an optimized method for analyzing microbial communities through metagenome binning. The method comprises the following steps of: filtering sequencing data to obtain high-quality sequencing data, selecting different assembly strategies to obtain contigs according to the source of a sample and the sequencing data volume, and analyzing gene data. Compared with the prior art, the method disclosed by the invention is used for simultaneously carrying out biological information analysis on the whole community and single-bacterium genome analysis independent of isolated cultureaiming at the microbial community. According to the invention, on the metagenome level, an efficient high-quality assembly algorithm which is more suitable for sample characteristics and sequencing data volume is provided, rich and comprehensive information analysis content is contained, and individuality and novelty are visualized; and the method realizes metagenome analysis qualitative change from communities to single bacteria, and the scheme comprises data correction capable of improving accuracy and comprehensive and perfect bin information summarization, is beneficial to screening valuable target bins more conveniently and efficiently, and further comprises systematically perfect mining ideas of subsequent analysis of the target bins.
Owner:GUANGZHOU GENE DENOVO BIOTECH

Efficient sugarcane or sugarcane related species stem tip chromosome flaking method

PendingCN111238888AShorten the timeAvoid repeated tedious steps of collection and cleaningPreparing sample for investigationBiotechnologyStaining
The invention provides an efficient sugarcane or sugarcane related species stem tip chromosome flaking method, and belongs to the technical field of cell biology. The invention provides an efficient sugarcane stem tip chromosome flaking method aiming at solving the problems that sugarcane chromosomes are large in number and small in form and ideal division phase metaphase cells are difficult to obtain through root tip flaking. Chromosome flaking is carried out by utilizing stem tip meristematic region tissues of sugarcane and sugarcane related species in a vigorous growth period, the method has the advantages of convenient material taking, large meristematic area tissue sample size, vigorous division, many metaphase cells and clear and dispersed chromosome structure, and the technical keypoints of material selection, pretreatment, fixation, dissociation dyeing, flaking and chromosome morphology microscopic observation are disclosed. The method is simple and convenient, accurate and reliable in result, good in repeatability, easy to operate and short in experiment period and improves the sugarcane chromosome genome analysis efficiency. Technical support is provided for sugarcane chromosome karyotype research, germplasm resource classification identification and protection utilization.
Owner:SUGARCANE RES INST OF YUNNAN ACADEMY OF AGRI SCI
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