76 results about "Exome sequencing" patented technology

The invention relates to a screening device of a pathogenic uniparental disomy, a storage medium and a processor, wherein the screening device, the storage medium and the processor belong to the fieldof gene detecting technology. The screening device comprises the components of a data acquisition module which is used for acquiring whole exome sequencing data; a site screening module which is screening a preset-condition mutation; an LOH determining module which is used for performing LOH determining according to the obtained mutation condition; and a UPD determining module which is used for determining the UPD according to the LOH and determines a close relative relation when the number of chromosomes with LOH is higher than 2; determines fragment deletion when the fragment with LOH is asingle copy; and determines other fragments with LOH as UPD. The screening device performs LOH determining and finally obtains a UPD determining result through screening the specific mutation site. Based on whole exome sequencing data, a risk of pathogenic UPD existence can be reminded in testing routine pathogenic mutations, and furthermore no additional experiment or manpower cost is required.

The present disclosure provides systems and methods of classifying and / or identifying a cancer subtype. The present disclosure also provides methods of enhancing the prediction of a tumor mutational burden by using both synonymous and non-synonymous somatic mutations in the computation method. It is believed that by increasing the number of mutations in the computation of the tumor mutational burden, a comparatively more consistent tumor mutational burden may be derived, especially for targeted-panel sequencing. It is believed that the consistent computation of the tumor mutational burden from targeted panels allows for computationally quicker and less costly analysis of sequencing data as compared with a tumor mutational burden computed from whole exome sequencing data.

The invention relates to a kit of extracting a whole genome DNA (Deoxyribonucleic Acid) from blood and a using method thereof. The kit is characterized by comprising a red blood cell lysate, a white blood cell scrubbing solution, digestive juice, proteinase K, a purifying liquid, gDNA salting out liquid, a gDNA scrubbing solution, a gDNA eluant and the like. The using method of the whole genome DNA extraction kit for blood is characterized by comprising the following steps: washing the red blood cell split to obtain the white blood cell; splitting the white blood cell by the digestive juice containing the proteinase K; and further purifying by an improved lithium chloride purifying liquid, salting out the liquid layer, and carrying out chromatography to obtain the high purity whole genome DNA. When the kit provided by the invention is used to extract the whole genome DNA in blood, plasma and serum in blood are not separated in advance but fresh or frozen anti-freezing whole blood is taken, wherein the lowest blood volume required reaches 20 microliters or blood cakes are required. According t the kit provided by the invention, the whole genome DNA with high purity can be fully unlinked and the PCR (Polymerase Chain Reaction) amplification is efficiently carried out, so that the kit is used for scientific research or clinical diagnostic analysis such as PCR amplification, gene expression, gene sequencing, whole genome sequencing, exome sequencing, gene mutation and single nucleotide polymorphism.