41 |
METHODS AND COMPOSITIONS FOR DETERMINING PLOIDY |
US15573800 |
2016-05-10 |
US20180148777A1 |
2018-05-31 |
Huseyin Eser KIRKIZLAR; Raheleh SALARI; Styrmir SIGURJONSSON; Bernhard ZIMMERMANN; Allison RYAN; Naresh VANKAYALAPATI |
The invention provides improved methods, compositions, and kits for detecting ploidy of chromosome regions, e.g. for detecting cancer or a chromosomal abnormality in a gestating fetus. The methods can utilize a set of more than 200 SNPs that are found within haploblocks and can include analyzing a series of target chromosomal regions related to cancer or a chromosomal abnormality in a gestating fetus. Finally the method may use knowledge about chromosome crossover locations or a best fit algorithm for the analysis. The compositions may comprise more than 200 primers located within haplotype blocks known to show CNV. |
42 |
DEVICES, SYSTEMS, AND METHODS FOR HIGH-RESOLUTION MELT ANALYSIS |
US15239495 |
2016-08-17 |
US20170323051A1 |
2017-11-09 |
Sophie Isabelle Marie Paquerault; Bradley Scott Denney |
Devices, systems, and methods for automatic genotyping obtain high-resolution melt data from a test sample defining a melting curve for a target nucleic acid in the test sample; obtain high-resolution melt data from a control sample defining a melting curve for a wild type of the target nucleic acid in the control sample; calculate melting curve derivatives of the melting curves for the test sample and the control sample, respectively, wherein each melting curve derivative represents a negative derivative of a fluorescence emitted from a nucleic acid sample as a function of temperature affecting nucleic acid denaturation; calculate parameters defining differences between features of the test sample and the control sample melting curve derivatives; and assign a genotype to the test sample based on a comparison of the calculated parameters to predetermined thresholds and boundaries defining genotypes. |
43 |
Two-Dimensional Cell Array Device and Apparatus for Gene Quantification and Sequence Analysis |
US14771339 |
2013-03-12 |
US20160010078A1 |
2016-01-14 |
Masataka SHIRAI; Hideki KAMBARA; Kiyomi TANIGUCHI; Maiko TANABE |
In order to conduct gene expression analysis of a number of genes in a number of cells, it has been necessary to separate cells, extract genes therefrom, amplify nucleic acids, and perform sequence analysis. However, separation of cells imposes damages on the cells, and it requires the use of an expensive system. Gene expression analysis in each cell can be carried out with high accuracy by arranging a pair of structures comprising a cell trapping section and a nucleic acid trapping section in a vertical direction to extract individual genes in relevant cells, synthesizing cDNA in the nucleic acid trapping section, amplifying nucleic acids, and analyzing the sequences using a next-generation sequencer. |
44 |
GENETIC MARKER FOR THE DIAGNOSIS OF DEMENTIA WITH LEWY BODIES |
US14236054 |
2012-07-30 |
US20140249047A1 |
2014-09-04 |
Katrin Beyer; Montserrat Domingo; Aurelio Ariza |
Specific polymorphisms in BChE gene have been found which allow determining whether a patient suffers from dementia with Lewy bodies (DLB), and allow distinguishing it from Alzheimer's disease. The invention provides an in vitro method for the diagnosis of DLB comprising determining in a biological sample from a subject, the genotype of the following polymorphisms in butyrylcholinesterase (BChE) gene: the polymorphic site at position 3687 in NCBI Accession Number NG_009031 (i.e. SEQ ID NO: 1) the polymorphic site at position 4206 in SEQ ID NO: 1, the polymorphic site at position 4443 in SEQ ID NO: 1. and the polymorphic site at position 68974 in NCBI Accession Number NG_009031 (i.e. position 934 in SEQ ID NO: 26). |
45 |
Nucleic acid-based logic circuits |
US11490948 |
2006-07-21 |
US20070072215A1 |
2007-03-29 |
Georg Seelig; David Soloveichik; Erik Winfree; David Zhang |
This invention relates to nucleic acid-based logic gates. The invention further relates to circuits comprising nucleic acid-based logic gates and methods of performing operations with the gates and circuits provided herein. |
46 |
유전자 검사에 기초하여 소아에게 권장 식이 정보를 제공하는 방법 및 이 방법에 사용되는 시스템 |
KR1020130054556 |
2013-05-14 |
KR1020140134534A |
2014-11-24 |
이병철; 정승필; 차미정; 공시원 |
The present invention relates to a method for providing food or nutrient information to cure or prevent autism or developmental delay based on genetic variation information obtained by carrying out a genetic test for a young child, a system for carrying out the same, and a computer readable recording medium in which a program for executing the method is recorded. According to the present invention, the method is able to provide information on a diet to cure or prevent autism or developmental delay based on genetic test results for the young child who has a high possibility of autism or developmental delay. |
47 |
루이소체 치매 진단용 유전자 마커 |
KR1020147005154 |
2012-07-30 |
KR1020140094675A |
2014-07-30 |
바이어카트린; 도밍고몬세라트; 아리자아우렐리오 |
루이소체 치매(DLB)를 앓고 있는 지를 결정하고 및 이것이 알츠하이머 질환과 구분할 수 있게하는 BChE 유전자에서의 특이적 다형성들을 발견하였다. 본 발명은 대상체로부터 나온 생물학적 시료에서, 부티릴콜린에스테라제(BChE) 유전자에서의 하기 다형성들의 유전자형을 결정하는 것을 포함하는, DLB의 시험관 내 진단 방법을 제공한다: NCBI 수탁 번호 NG_009031(즉, 서열 번호 1) 내의 위치 3687에 있는 다형성 부위, 서열 번호 1 내의 위치 4206에 있는 다형성 부위, 서열 번호 1 내의 위치 4443에 있는 다형성 부위, 및 NCBI 수탁 번호 NG_009031 내의 위치 68974(즉, 서열 번호 26 내의 위치 934)에 있는 다형성 부위.
|
48 |
섬유증 감수성 IL22RA2 유전자 및 이의 용도 |
KR1020147006064 |
2012-08-03 |
KR1020140058611A |
2014-05-14 |
드쎄잉,알랭; 쎄르또리오,마띠유; 아르지호,로랭 |
본 발명은 섬유증 감수성 유전자 자리인 IL22RA2 유전자 자리의 동정을 개시하고, 이는 섬유증에 대한 소인을 검출하거나, 섬유증의 진단 및 예후를 위해 사용될 수 있을 뿐만 아니라, 약학적으로 활성인 약물의 스크리닝을 위해 사용될 수 있다. 본 발명은 또한 바이러스 감염에 의해 영향을 받은 환자가 항바이러스제 및/또는 인터페론에 의한 치료에 반응할 가능성을 측정하는 방법으로서, 환자의 생물학적 샘플에서 L22RA2 유전자 자리 또는 IL22RA2 발현 또는 IL22RA2 단백질 활성의 변경을 측정하는 단계를 포함하는 방법을 제공한다.
|
49 |
식품에서의 해충 클레임 분석 방법 |
KR1020020003240 |
2002-01-21 |
KR1020020083906A |
2002-11-04 |
류문일; 나자현 |
PURPOSE: A method for analyzing a harmful insect claim of the food is provided to find out the inflow time of the harmful insect by reversely tracing the growth process from the claim occasion to the food production based on the ecological characteristic of the harmful insect. CONSTITUTION: Daily growth according to the temperature of a kind and a form of the harmful insect is found out on the basis of the basic data collected at the claim reception and a harmful insect movement database(122). The basic data includes the damaged products, the kind and form of the harmful insect, the claim date, the production date, and the daily temperature environment between the production and the claim date. A period of each insect form is calculated based on the daily growth accumulated from the claim date(128). After analyzing the change of the insect form between the production and the claim date(130), the time of the pollution is defined by tracing the first egg period(134). |
50 |
DETECTING MUTATIONS AND PLOIDY IN CHROMOSOMAL SEGMENTS |
PCT/US2015026957 |
2015-04-21 |
WO2015164432A8 |
2015-12-03 |
BABIARZ JOSHUA; CONSTANTIN TUDOR POMPILIU; EUBANK LANE A; GEMELOS GEORGE; HILL MATTHEW MICAH; KIRKIZLAR HUSEYIN ESER; RABINOWITZ MATTHEW; SAKARYA ONUR; SIGURJONSSON STYRMIR; ZIMMERMAN BERNHARD |
The invention provides methods, systems, and computer readable medium for detecting ploidy of chromosome segments or entire chromosomes based on phasing of the alleles and determination of individual and joint probabilities and a best-fit model. In some aspects, the invention provides methods, systems, and computer readable medium for detecting cancer or a chromosomal abnormality in a gestating fetus. The invention also provides methods for detecting circulating tumor nucleic acids based on the level of allelic imbalance present at the polymorphic loci found by ploidy determination. The invention also provides a method for detecting single nucleotide variants based on an estimation of amplification efficiency and error rate and a method for detecting single nucleotide variants based on a median variant allele frequency for a plurality of control samples from individuals. |
51 |
METHOD FOR PREDICTING RESPONSE OR PROGNOSIS OF LUNG ADENOCARCINOMA WITH EGFR-ACTIVATING MUTATIONS |
PCT/IB2012001595 |
2012-07-05 |
WO2013005107A3 |
2013-05-23 |
YU SUNG-LIANG; YANG PAN-CHYR; YUAN SHINSHENG; CHANG GEE-CHEN; CHEN HSUAN-YU; LI KER-CHAU |
The invention provides a method for predicting the response of an EGFR-activating mutant subject suffering from a lung adenocarcinoma and receiving treatment with epidermal growth factor receptor tyrosine kinase inhibitor (EGFR-TKI) and a method for predicting prognosis in an EGFR-activating mutant subject suffering from a lung adenocarcinoma and receiving treatment with EGFR-TKI. In the methods of the invention, clustered genomic alterations in specific chromosomes (in particular chromosomes 5p, 7p, 8q or 14q) are determined as a tool for predicting the response or prognosis. |