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1. (WO2017156290) A NOVEL ALGORITHM FOR SMN1 AND SMN2 COPY NUMBER ANALYSIS USING COVERAGE DEPTH DATA FROM NEXT GENERATION SEQUENCING
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Pub. No.: WO/2017/156290 International Application No.: PCT/US2017/021603
Publication Date: 14.09.2017 International Filing Date: 09.03.2017
IPC:
C07H 21/04 (2006.01) ,C12N 15/09 (2006.01) ,C12N 15/12 (2006.01) ,C12Q 1/68 (2006.01)
C CHEMISTRY; METALLURGY
07
ORGANIC CHEMISTRY
H
SUGARS; DERIVATIVES THEREOF; NUCLEOSIDES; NUCLEOTIDES; NUCLEIC ACIDS
21
Compounds containing two or more mononucleotide units having separate phosphate or polyphosphate groups linked by saccharide radicals of nucleoside groups, e.g. nucleic acids
04
with deoxyribosyl as saccharide radical
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
15
Mutation or genetic engineering; DNA or RNA concerning genetic engineering, vectors, e.g. plasmids, or their isolation, preparation or purification; Use of hosts therefor
09
Recombinant DNA-technology
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
15
Mutation or genetic engineering; DNA or RNA concerning genetic engineering, vectors, e.g. plasmids, or their isolation, preparation or purification; Use of hosts therefor
09
Recombinant DNA-technology
11
DNA or RNA fragments; Modified forms thereof
12
Genes encoding animal proteins
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
Applicants:
BAYLOR COLLEGE OF MEDICINE [US/US]; One Baylor Plaza Houston, TX 77030, US
Inventors:
ZHANG, Jinglan; US
WONG, Lee-jun, C.; US
FENG, Yanming; US
GE, Xiaoyan; US
Agent:
SISTRUNK, Melissa, L.; US
PRATI, Danny, A.; US
SHISHIMA, Gina; US
SMITH, Darren; US
YAQUIAN, Juan, Carlos; US
Priority Data:
62/305,78009.03.2016US
Title (EN) A NOVEL ALGORITHM FOR SMN1 AND SMN2 COPY NUMBER ANALYSIS USING COVERAGE DEPTH DATA FROM NEXT GENERATION SEQUENCING
(FR) NOUVEL ALGORITHME POUR L'ANALYSE DU NOMBRE DE COPIES DE SMN1 ET SMN2 À L'AIDE DE DONNÉES DE PROFONDEUR DE COUVERTURE À PARTIR D'UN SÉQUENÇAGE DE PROCHAINE GÉNÉRATION
Abstract:
(EN) The disclosure concerns methods and compositions for obtaining reliable copy numbers of highly homologous gene(s) using next generation sequencing. The methods determine whether or not an individual is a carrier of an autosomal recessive gene mutation using a determination of copy number of two genes, in specific embodiments. In at least some cases, an individual is identified whether or not he or she is a carrier or affected for a genetic defect in SMN1, wherein the defect is associated with spinal muscular atrophy.
(FR) L'invention concerne des procédés et des compositions permettant d'obtenir des nombres de copies fiables de gène(s) hautement homologues à l'aide d'un séquençage de prochaine génération. Les procédés déterminent qu'un sujet est porteur ou non d'une mutation d'un gène récessif autosomique à l'aide d'une détermination du nombre de copies de deux gènes, dans des modes de réalisation spécifiques. Dans au moins certains cas, il est identifié qu'un sujet est ou non porteur, ou affecté ou non, d'un défaut génétique dans SMN1, ce défaut étant associé à l'atrophie musculaire spinale.
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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 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)