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1. (WO2017132438) BOTTLENECK SEQUENCING
Latest bibliographic data on file with the International Bureau

Pub. No.: WO/2017/132438 International Application No.: PCT/US2017/015229
Publication Date: 03.08.2017 International Filing Date: 27.01.2017
IPC:
C12Q 1/68 (2006.01) ,C40B 20/04 (2006.01)
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
68
involving nucleic acids
C CHEMISTRY; METALLURGY
40
COMBINATORIAL TECHNOLOGY
B
COMBINATORIAL CHEMISTRY; LIBRARIES, e.g. CHEMICAL LIBRARIES, IN SILICO LIBRARIES
20
Methods specially adapted for identifying library members
04
Identifying library members by means of a tag, label, or other readable or detectable entity associated with the library members, e.g. decoding processes
Applicants:
THE JOHNS HOPKINS UNIVERSITY [US/US]; 3400 N. Charles Street Baltimore, Maryland 21218, US
Inventors:
VOGELSTEIN, Bert; US
KINZLER, Kenneth; US
HOANG, Margaret; US
PAPADOPOULOS, Nickolas; US
Agent:
GALVEZ, Guido J.; US
Priority Data:
62/288,86929.01.2016US
Title (EN) BOTTLENECK SEQUENCING
(FR) SÉQUENÇAGE À GOULOT D’ÉTRANGLEMENT
Abstract:
(EN) Bottleneck Sequencing System (BotSeqS) is a next-generation sequencing method that simultaneously quantifies rare somatic point mutations across the mitochondrial and nuclear genomes. BotSeqS combines molecular barcoding with a simple dilution step immediately prior to library amplification. BotSeqS can be used to show age and tissue-dependent accumulations of rare mutations and demonstrate that somatic mutational burden in normal tissues can vary by several orders of magnitude, depending on biologic and environmental factors. BotSeqS has been used to show major differences between the mutational patterns of the mitochondrial and nuclear genomes in normal tissues. Lastly, BotSeqS has shown that the mutation spectra of normal tissues were different from each other, but similar to those of the cancers that arose in them.
(FR) Selon la présente invention, un système de séquençage à goulot d’étranglement (BotSeqS) est un procédé de séquençage de nouvelle génération qui quantifie simultanément des mutations ponctuelles somatiques rares dans l’ensemble des génomes mitochondrial et nucléaire. BotSeqS combine le codage à barres moléculaire avec une simple étape de dilution immédiatement avant l'amplification de banque. BotSeqS peut être utilisé pour mettre en évidence les accumulations dépendantes de l’âge et du tissu de mutations rares et démontrer que la charge de mutation somatique dans des tissus normaux peut varier de plusieurs ordres de grandeur, suivant des facteurs biologiques et environnementaux. BotSeqS a été utilisé pour mettre en évidence des différences majeures entre les profils de mutation des génomes mitochondrial et nucléaire dans des tissus normaux. Enfin, BotSeqS a montré que les spectres de mutation de tissus normaux sont différents les uns des autres, mais similaires à ceux des cancers qui surviennent dans ceux-ci.
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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, 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 Organization (AM, AZ, BY, KG, KZ, RU, TJ, TM)
European Patent Office (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)