Search International and National Patent Collections
Some content of this application is unavailable at the moment.
If this situation persists, please contact us atFeedback&Contact
1. (WO2017136720) VARIANT DETECTION OF SEQUENCING ASSAYS
Latest bibliographic data on file with the International Bureau

Pub. No.: WO/2017/136720 International Application No.: PCT/US2017/016498
Publication Date: 10.08.2017 International Filing Date: 03.02.2017
IPC:
G06F 19/18 (2011.01) ,G06F 19/26 (2011.01) ,G06F 19/24 (2011.01)
G PHYSICS
06
COMPUTING; CALCULATING; COUNTING
F
ELECTRIC DIGITAL DATA PROCESSING
19
Digital computing or data processing equipment or methods, specially adapted for specific applications
10
Bioinformatics, i.e. methods or systems for genetic or protein-related data processing in computational molecular biology
18
for functional genomics or proteomics, e.g. genotype-phenotype associations, linkage disequilibrium, population genetics, binding site identification, mutagenesis, genotyping or genome annotation, protein-protein interactions or protein-nucleic acid interactions
G PHYSICS
06
COMPUTING; CALCULATING; COUNTING
F
ELECTRIC DIGITAL DATA PROCESSING
19
Digital computing or data processing equipment or methods, specially adapted for specific applications
10
Bioinformatics, i.e. methods or systems for genetic or protein-related data processing in computational molecular biology
26
for data visualisation, e.g. graphics generation, display of maps or networks or other visual representations
G PHYSICS
06
COMPUTING; CALCULATING; COUNTING
F
ELECTRIC DIGITAL DATA PROCESSING
19
Digital computing or data processing equipment or methods, specially adapted for specific applications
10
Bioinformatics, i.e. methods or systems for genetic or protein-related data processing in computational molecular biology
24
for machine learning, data mining or biostatistics, e.g. pattern finding, knowledge discovery, rule extraction, correlation, clustering or classification
Applicants:
GOOD START GENETICS, INC. [US/US]; 237 Putnam Avenue Cambridge, MA 02139, US
Inventors:
GORE, Athurva; US
TSUNG, Eric; US
PORRECA, Gregory; US
Agent:
MAGGIN, Benjamin, D.; US
LEONARDO, Mark, S.; US
HSIAO, Weber; US
HYDE, Zachary, D.; US
MEYERS, Thomas, C.; US
Priority Data:
62/292,09605.02.2016US
Title (EN) VARIANT DETECTION OF SEQUENCING ASSAYS
(FR) DÉTECTION DE VARIANTS DE TESTS DE SÉQUENÇAGE
Abstract:
(EN) Methods for improving variant protection are provided. The methods include the steps of generating an in silico genome map that includes a primary path, and a secondary path comprising variants that were missed or incorrectly called in a sequence assembly simulation, aligning the secondary path to the primary path, convoluting the second path to the primary path, and identifying the variants based upon reads that align with the secondary path but not the primary path. All of method steps can be carried out using a computer. Systems incorporated these methods are also included.
(FR) La présente invention concerne des procédés permettant d'améliorer la protection de variants. Les procédés comprennent les étapes consistant à générer une carte génomique in silico qui comprend une voie primaire et une voie secondaire comportant des variants qui ont été manqués ou incorrectement détectés dans une simulation d'assemblage de séquence, à aligner la voie secondaire par rapport à la voie primaire, à effectuer une convolution de la voie secondaire avec la voie primaire et à identifier les variants basés sur des lectures qui s'alignent avec la voie secondaire mais pas avec la voie primaire. Toutes les étapes du procédé peuvent être réalisées à l'aide d'un ordinateur. L'invention concerne également des systèmes incorporant ces procédés.
front page image
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)