8 results about "Genetics predisposition" patented technology

Embodiments of the present invention provide an approach for enabling medical professionals in determining a genetic predisposition of a medical cause from a family tree analysis. Specifically, the approach involves receiving medical symptoms of a patient and medical narrations about family members, which are organized in a family tree. The medical narrations are collected using questions generated using a supporting symptoms list. The narrations are filtered to provide a summary of relevant information. A linked tree of related words is established based on the summary. A natural language processing engine generates insights based on an analysis of the summary. Likelihood paths of genetic susceptibility to a medical condition through the family are determined by identifying family member symptoms in the linked tree of related words. These likelihood paths are then matched with a known inheritance pattern of a disease to provide an alert to the family members about the disease.

The invention relates to a primer group, a kit and a method for detecting a Fabry cardiomyopathy genetic susceptibility gene, and belongs to the technical field of gene detection. The genetic susceptibility gene of the Brie cardiomyopathy is a GLA gene, and the mutation site of the genetic susceptibility gene is c.640-801Ggt; a; the primer group comprises a PCR (Polymerase Chain Reaction) amplification primer group, and the amplification primer group comprises a forward PCR amplification primer and a reverse PCR amplification primer; the primer group further comprises a Sanger sequencing primer group, and the sequencing primer group comprises a forward sequencing primer and a reverse sequencing primer. The invention also provides a kit and a detection method based on the primer group. According to the primer group and the kit containing the primer group, the c.640-801Ggt of the Fabry cardiomyopathy GLA gene can be detected on the basis of a first-generation sequencing technology; a site mutation has important value for early screening detection and genetic risk assessment of the disease gene.

The present application relates to the field of forensic pathology, forensic genetics and molecular identification technology, in particular to a primer composition for evaluating genetic susceptibility of unexplained sudden death, products and applications thereof. The primer composition provided by the present application comprises nucleotide sequences such as amplification primers shown in SEQ ID NO. 1-512, that is, 256 pairs of primers related to 238 quantitative trait loci. The present application further provides products and methods for evaluating genetic susceptibility of unexplained sudden death of individuals. Experimental results show that the primer composition or kit provided by the present application can detect consistent and highly repeatable genotyping results, and on this basis, the genetic susceptibility of unexplained sudden death can be further evaluated by calculating the polygenic risk score, which has important significance for the genetic background research of unexplained sudden death and the accurate cause of death identification in sudden death related cases in forensic identification work.

This provides a means to accurately and easily determine an individual's genetic predisposition to vascular aging. [Solution] A method for determining the genetic risk of vascular aging, comprising the steps of: detecting alleles of single nucleotide polymorphisms (SNPs) at the 51st base of one or more sequences identified in (A) to (E) below from a DNA-containing sample taken from a subject; and determining that the subject is prone to developing symptoms related to vascular aging if the detected allele's base is a risk allele. (A)SNP:ID rs17108108 (B)SNP:ID rs2271987 (C)SNP:ID rs6470860 (D)SNP:ID rs2284972 (E)SNP:ID rs12028323

The present disclosure is related, at least in part, to methods of screening subjects, such as pediatric subjects, for diseases and conditions. In some embodiments, the pediatric subjects are seemingly healthy subjects. In some embodiments, the method of assessing genetic predisposition to a set of diseases in a subject, comprises obtaining a sample from the subject, collecting genetic material from the sample, and assessing the presence or absence of at least one pathogenic variant or a likely pathogenic variant for each disease in the set of diseases described herein.

In one aspect, the invention provides a method of screening a human subject to determine if said subject has a genetic predisposition to develop, or is suffering from Facioscapulohumeral Dystrophy (FSHD), said method comprising: (a) providing a biological sample comprising genomic DNA from the subject; and (b) analyzing the portion of the genomic DNA in the sample corresponding to the distal D4Z4-pLAM region on chromosome 4 and determining the presence or absence of a polymorphism resulting in a functional polyadenylation sequence operationally linked to exon 3 of the DUX4 gene.

The present invention relates to a method for determination of the genetic predisposition of a subject to sports development in sports disciplines. The method includes the steps of evaluation of a genetic sample of the subject for the presence of polymorphisms in genes determining the formation of physical traits associated with the subject sports development in sports disciplines to obtain a polygenic profile, analysis of polygenic profile to identify genetic variants responsible for predisposition to sports disciplines, and determination of the subject predisposition to practice a sports discipline based on the polygenic profile obtained. Moreover, the present invention relates to a method for individualised management of sports training of a subject, the present invention also relates to a method for individualised management of dietary supplementation of a subject, and the present invention also relates to a method for injury susceptibility prediction of a subject.

In one aspect, the invention provides a method of screening a human subject to determine if said subject has a genetic predisposition to develop, or is suffering from Facioscapulohumeral Dystrophy (FSHD), said method comprising: (a) providing a biological sample comprising genomic DNA from the subject; and (b) analyzing the portion of the genomic DNA in the sample corresponding to the distal D4Z4-pLAM region on chromosome 4 and determining the presence or absence of a polymorphism resulting in a functional polyadenylation sequence operationally linked to exon 3 of the DUX4 gene.