5 results about "Medical genetics" patented technology

The invention relates to the field of molecular biology and medical genetics, and particularly discloses a method for regulating and controlling transport of a TMC1 plasma membrane through TRAPPC3 and application of the method in an auditory function. The TMC1 is a core protein of a hair cell mechanical electrotransduction (MET) channel, and abnormal positioning of the TMC1 is closely related to hereditary hearing loss. The research finds that the transport protein particle compound component TRAPPC3 can specifically interact with the TMC1 protein to promote the TMC1 to be correctly positioned to a cell membrane from cytoplasm, so that the auditory function of hair cells is maintained. According to the method for regulating and controlling the positioning of the TMC1 from the cytoplasm to the cell membrane through co-expression of the TRAPPC3, a functional TMC1 channel can be reconstructed in a heterologous system, and the method is suitable for deafness molecular mechanism research, drug screening and gene therapy strategy development. According to the invention, the TRAPPC3-TMC1 interaction mechanism is provided for the first time, and a new intervention target is provided for hereditary hearing loss treatment.

The invention relates to the technical field of crossing of bioinformatics, medical genetics and artificial intelligence, and discloses a gene variation pathogenicity automatic rating method and system based on multi-agent game and thinking chain reasoning, and the method comprises the following steps: retrieving data related to a target variation site; based on the related data; the proposal agent, the rejecter agent and the decision maker agent carry out multi-round iteration gene variation pathogenicity rating; and monitoring a rating conclusion output by the decision maker agent and the confidence score in real time, terminating the multi-agent game step when a preset dynamic truncation condition is met, and outputting a final genetic variation pathogenicity rating conclusion. According to the method, model illusion is eliminated through a resistance game, unstructured literatures are analyzed by utilizing a thinking chain, and accurate and transparent rating of gene variation pathogenicity can be realized.

The invention discloses an automatic classification method, device and equipment for genetic variation of an embryonic line and a storage medium, and relates to the technical field of bioinformatics and medical genetics. The method comprises the steps that an input variation data set is acquired, the variation data set is analyzed, an initial evidence set is generated, and the initial evidence set is stored in a database; the initial evidence set comprises 28 state values of ACMG evidence standards, performing optimization processing on conflict evidences in the initial evidence set through a machine learning model to generate an optimized evidence set, performing classification decision on variation according to the optimized evidence set in combination with a Bayesian framework, and outputting a classification result and confidence. The problems that in the prior art, ACMG evidence coverage is incomplete, gene specificity is insufficient, and the dynamic updating capacity is limited are solved, and efficient and standardized germline gene variation classification is achieved.

The present application relates to the technical field of the cross of bioinformatics, medical genetics and artificial intelligence, and discloses a gene mutation pathogenicity automatic rating method and system based on multi-agent game and thought chain reasoning, which comprises the following steps: searching data related to a target mutation site; based on the related data; performing multi-round iterative gene mutation pathogenicity rating by a proposer agent, a refuter agent and a decision maker agent; monitoring the rating conclusion output by the decision maker agent and the confidence score in real time, and when a preset dynamic truncation condition is met, terminating the multi-agent game step and outputting the final gene mutation pathogenicity rating conclusion. The present application can realize accurate and transparent rating of gene mutation pathogenicity by eliminating model hallucinations through adversarial games and analyzing unstructured documents by using thought chains.

Some embodiments of the methods and compositions provided herein relate to obtaining long read information from short reads of a target nucleic acid. Some embodiments include steps to selectively generate, mark, and amplify long nucleic acid fragments. Some embodiments include enriching for certain sequences in the long fragments with selection probes directed to an American College of Medical Genetics (ACMG) panel of genes. Some embodiments also include fragmenting the long nucleic acid fragments into shorter fragments for sequencing, and informatically reconstructing a sequence of the target nucleic acid.