Abstract: It was discovered that, for individuals with certain types of mutations, clinical outcomes or phenotypes can be very accurately predicted. For example, for an individual with autism harboring a de novo LGD mutation, the patient’s IQ, behavioral phenotypes, and motor/movement phenotypes, and the severity of autism can be predicted. For these LGD mutations, due to a mRNA surveillance mechanism called NMD (nonsense-mediated decay), it was discovered that clinical outcomes and phenotypes are strongly correlated with the expression intensity of the exon harboring the mutation. A method/model was developed, which is called PDS (phenotype dosage sensitivity), to predict phenotypes based on this observation, and the model is able to predict phenotypes at a much higher level of accuracy not previously possible. This disclosure is the first to link LGD mutations and clinical phenotypes in this manner.

Abstract: A method for managing query-based product representations includes receiving product data supplied by a product supply entity, wherein the product data is associated with one or more products for which the product supply entity provides information, generating a product representation generator for the product supply entity from a query representation generator including a machine learning model, wherein the product representation generator is trained from the query representation generator based on a portion of the product data, wherein the query representation generator was trained from a representation generator template based on user query data supplied by a search provider, wherein the query representation generator is generic across multiple product supply entities, and providing the product representation generator specific to the product supply entity, wherein the product representation generator is operable to relate a product data representation generated by the product representation generator to r

Abstract: A three-position vacuum switch for realizing external grounding of a load side by using a connected busbar overcomes the problems in the prior art that load side grounding is realized depending on the opening and closing of a vacuum arc extinguishing chamber, a misoperation easily occurs because an operator cannot see the grounding situation intuitively, and when an operating mechanism machine has a problem, it needs to have a grounding line plugged in externally, which cause inconvenient operations and huge safety risks, characterized in that a connected busbar is hinged on front and back sides of a load socket, the vacuum arc extinguishing chamber is connected to the connected busbar by using a pin, the connected busbar is electrically connected to a grounding socket to realize primary grounding, and the vacuum arc extinguishing chamber is electrically connected to the grounding socket to realize auxiliary grounding.