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1. (WO2019046644) SYSTEMS AND METHODS FOR DETECTING DE NOVO MUTATIONS IN HUMAN EMBRYOS
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Pub. No.: WO/2019/046644 International Application No.: PCT/US2018/048953
Publication Date: 07.03.2019 International Filing Date: 30.08.2018
IPC:
C12Q 1/6869 (2018.01) ,C12Q 1/6806 (2018.01) ,C12Q 1/24 (2006.01) ,C12N 5/071 (2010.01)
[IPC code unknown for C12Q 1/6869][IPC code unknown for C12Q 1/6806]
C CHEMISTRY; METALLURGY
12
BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
Q
MEASURING OR TESTING PROCESSES INVOLVING ENZYMES OR MICRO-ORGANISMS; COMPOSITIONS OR TEST PAPERS THEREFOR; PROCESSES OF PREPARING SUCH COMPOSITIONS; CONDITION-RESPONSIVE CONTROL IN MICROBIOLOGICAL OR ENZYMOLOGICAL PROCESSES
1
Measuring or testing processes involving enzymes or micro-organisms; Compositions therefor; Processes of preparing such compositions
02
involving viable micro-organisms
24
Methods of sampling, or inoculating or spreading a sample; Methods of physically isolating an intact micro-organism
C CHEMISTRY; METALLURGY
12
BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
N
MICRO-ORGANISMS OR ENZYMES; COMPOSITIONS THEREOF; PROPAGATING, PRESERVING, OR MAINTAINING MICRO-ORGANISMS; MUTATION OR GENETIC ENGINEERING; CULTURE MEDIA
5
Undifferentiated human, animal or plant cells, e.g. cell lines; Tissues; Cultivation or maintenance thereof; Culture media therefor
07
Animal cells or tissues
071
Vertebrate cells or tissues, e.g. human cells or tissues
Applicants:
COOPERGENOMICS, INC. [US/US]; 75 Corporate Drive Trumbull, Connecticut 06611, US
Inventors:
PATRIZIO, Pasquale; US
MOLINARI, Emanuela Stella Serena; US
MUNNE, Santiago; US
Agent:
KUAN, Roger C.; US
NOVAK, Jason J.; US
Priority Data:
62/552,95731.08.2017US
Title (EN) SYSTEMS AND METHODS FOR DETECTING DE NOVO MUTATIONS IN HUMAN EMBRYOS
(FR) SYSTÈMES ET PROCÉDÉS POUR LA DÉTECTION DE MUTATIONS DE NOVO DANS DES EMBRYONS HUMAINS
Abstract:
(EN) Methods for identifying de novo mutations in a tissue sample are described. These methods can include obtaining a plurality of cells from a tissue sample and separating the cells into a plurality of partitions, wherein each partition includes a single cell. These methods can further include amplifying the DNA in the partitions, sequencing the DNA in the partitions, identifying genomic variants in the partitions, and labeling a genomic variant as a de novo mutation when it is present in at least a threshold percentage of partitions.
(FR) L'invention concerne des procédés pour l'identification de mutations de novo dans un échantillon de tissu. Ces procédés peuvent comprendre l'obtention d'une pluralité de cellules à partir d'un échantillon de tissu et la séparation des cellules en une pluralité de fractions, chaque fraction comprenant une cellule unique. Ces procédés peuvent en outre comprendre l'amplification de l'ADN présent dans les fractions, le séquençage de l'ADN présent dans les fractions, l'identification de variants génomiques présents dans les fractions et le marquage d'un variant génomique comme correspondant à une mutation de novo lorsqu'il est présent dans au moins un pourcentage seuil des fractions.
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Designated States: AE, AG, AL, AM, AO, AT, AU, AZ, BA, BB, BG, BH, BN, BR, BW, BY, BZ, CA, CH, CL, CN, CO, CR, CU, CZ, DE, DJ, DK, DM, DO, DZ, EC, EE, EG, ES, FI, GB, GD, GE, GH, GM, GT, HN, HR, HU, ID, IL, IN, IR, IS, JO, JP, KE, KG, KH, KN, KP, KR, KW, KZ, LA, LC, LK, LR, LS, LU, LY, MA, MD, ME, MG, MK, MN, MW, MX, MY, MZ, NA, NG, NI, NO, NZ, OM, PA, PE, PG, PH, PL, PT, QA, RO, RS, RU, RW, SA, SC, SD, SE, SG, SK, SL, SM, ST, SV, SY, TH, TJ, TM, TN, TR, TT, TZ, UA, UG, US, UZ, VC, VN, ZA, ZM, ZW
African Regional Intellectual Property Organization (ARIPO) (BW, GH, GM, KE, LR, LS, MW, MZ, NA, RW, SD, SL, ST, SZ, TZ, UG, ZM, ZW)
Eurasian Patent Office (AM, AZ, BY, KG, KZ, RU, TJ, TM)
European Patent Office (EPO) (AL, AT, BE, BG, CH, CY, CZ, DE, DK, EE, ES, FI, FR, GB, GR, HR, HU, IE, IS, IT, LT, LU, LV, MC, MK, MT, NL, NO, PL, PT, RO, RS, SE, SI, SK, SM, TR)
African Intellectual Property Organization (BF, BJ, CF, CG, CI, CM, GA, GN, GQ, GW, KM, ML, MR, NE, SN, TD, TG)
Publication Language: English (EN)
Filing Language: English (EN)