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1. (WO2017196728) METHODS OF DETERMINING GENOMIC HEALTH RISK
Latest bibliographic data on file with the International Bureau    Submit observation

Pub. No.:    WO/2017/196728    International Application No.:    PCT/US2017/031559
Publication Date: 16.11.2017 International Filing Date: 08.05.2017
IPC:
Applicants: HUMAN LONGEVITY, INC. [US/US]; 4570 Executive Drive San Diego, California 92121 (US)
Inventors: DI IULIO, Julia; (US).
TELENTI, Amalio; (US)
Agent: SMITH, Deborah M.; (US).
BURKETTE, Scott L.; (US).
WHEELER, Matthew; (US)
Priority Data:
62/333,653 09.05.2016 US
62/410,783 20.10.2016 US
Title (EN) METHODS OF DETERMINING GENOMIC HEALTH RISK
(FR) PROCÉDÉS DE DÉTERMINATION D'UN RISQUE POUR LA SANTÉ GÉNOMIQUE
Abstract: front page image
(EN)Described are genomic health risk metrics elaborated herein to hold significant advantages for the health care industry. The likelihood that any given GSV will be deleterious is relatively small. Since every human genome sequenced may result in several million GSVs, the advantage of a genomic health risk metric such as a tolerability score, an n-mer score, a context dependent tolerance score, or a protein tolerability score to clinicians is that it will allow them to focus on and prioritize deleterious mutations.
(FR)L'invention concerne des mesures d'un risque pour la santé génomique permettant de conserver des avantages significatifs pour l'industrie des soins de santé. La probabilité, selon laquelle toute valeur de GSV est délétère, est relativement faible. Comme chaque génome humain séquencé peut conduire à plusieurs millions de GSV, l'avantage pour les cliniciens d'une mesure d'un risque pour la santé génomique, telle qu'un score de tolérabilité, un score de n-mères, un score de tolérance dépendant du contexte, ou un score de tolérabilité des protéines, est qu'elle leur permettra de se concentrer et de classer des mutations délétères.
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 (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)