Patent SG-11201902925P-A (SG)
Title: Phenotype/disease specific gene ranking using curated, gene library and network based data structures
Inventor: JUNG MARC
IPC: G16B30/00
Filed: 2017-10-03
Abstract: 608 Knowledge-based In ico gene data 4—* gene data (12) INTERNATIONAL APPLICATION PUBLISHED UNDER THE PATENT COOPERATION TREATY (PCT) (19) World Intellectual Property Organization International Bureau (43) International Publication Date 12 April 2018 (12.04.2018) WIP0 1 PCT °Ens °nolo omoiloo im Eno oimIE (10) International Publication Number WO 2018/067595 Al (51) International Patent Classification: GOOF 19/18 (2011.01) (21) International Application Number: PCT/US2017/054977 (22) International Filing Date: 03 October 2017 (03.10.2017) (25) Filing Language: English (26) Publication Language: English (30) Priority Data: 62/403,206 03 October 2016 (03.10.2016) US (71) Applicant: ILLUMINIA, INC. [US/US]; 5200 Illumina Way, San Diego, California 92122 (US). (72) Inventors: JUNG, Marc; 5200 Illumina Way, San Diego, California 92122 (US). NG, Sam; 5200 Illumina Way, San Diego, California 92122 (US). DELANEY, Joseph R.; 5200 Illumina Way, San Diego, California 92122 (US). (74) Agent: ZHOU, Feng et al.; Weaver Austin Villeneuve & Sampson LLP, P. 0. Box 70250, Oakland, California 94612-0250 (US). Designated States (unless otherwise indicated, for every kind of national protection available): 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. (84) Designated States (unless otherwise indicated, for every kind of regional protection available): ARIPO (BW, GH, GM, KE, LR, LS, MW, MZ, NA, RW, SD, SL, ST, SZ, TZ, UG, ZM, ZW), Eurasian (AM, AZ, BY, KG, KZ, RU, TJ, TM), European (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), OAPI (BF, BJ, CF, CG, CI, CM, GA, GN, GQ, GW, KM, ML, MR, NE, SN, TD, TG). Published: with international search report (Art. 21(3)) N O cc O C (54) Title: PHENOTYPE/DISEASE SPECIFIC GENE RANKING USING CURATED, GENE LIBRARY AND NETWORK BASED DATA STRUCTURES 602 604 Experimental gene data FIG. 6 (57) : The present invention relates to methods, systems and apparatus for capturing, integrating, organizing, navigating and querying large-scale data from high-throughput biological and chemical assay platforms. It provides a highly efficient meta-analysis infrastructure for performing research queries across a large number of studies and experiments from different biological and chemical assays, data types and organisms, as well as systems to build and add to such an infrastructure. According to various embodiments, methods, systems and interfaces for identifying genes that are potentially associated with a biological, chemical or medical concept of interest.