4 results about "Reference genome" patented technology

The present invention describes a bioinformatic method that can be used in the estimation of an individual's susceptibility to cancer through an evaluation of that individual's personal genome sequence. More specifically, this invention is a continuation-in-part of the methodology described in patent application Ser. No. 14 / 154,303 for the early detection of cancer. Said method is based upon an analysis of the structure of the repetitive DNA sequences surrounding and within the various cancer-linked regions of the individual's genome being evaluated. Said analysis of said individual's genome is then compared to the same analysis conducted for one or more reference genomes and / or genes for which cancer susceptibility has been previously determined. Said analysis can also be used to estimate the respective likelihoods that each cancer-linked genomic region will be damaged in the potential formation of a tumor. This patient-specific analysis can then be used in the economical design of locus-specific monitoring for early genetic damage as part of pre-cancer genetic screening.

The application provides an acquiring method and device for mutation sites of genes corresponding to digestive system, and relates to the technical filed of biological information. The method comprises the steps of conducting data comparison between a plurality of short sequences of the genes to be tested and the reference genome to obtain the preliminary variation site information of the genes to be tested; omitting the variation sites which don't meet the preset reservation requirements in the preliminary variation sites according to the preliminary variation site information, and taking the variation sites, obtained after omitted, in the genes to be tested as genes to be inspected; conducting comparison between the genes to be inspected and the multiple mutation sites of the genes corresponding to the digestive system in a digestive system gene pool; obtaining the site mutation conditions of the genes corresponding to the digestive system in the genes to be tested when the mutation sites which have the same positions and mutation basic groups as the mutation sites in the digestive system gene pool exist in the genes to be inspected. The acquiring method and device for the mutation sites of the genes corresponding to the digestive system can acquire the mutation conditions of multiple variation sites, in the variation sites of the genes to be tested, corresponding to the digestive system.